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  • 1
    Publication Date: 2001-06-26
    Description: The frequencies of low-activity alleles of glucose-6-phosphate dehydrogenase in humans are highly correlated with the prevalence of malaria. These "deficiency" alleles are thought to provide reduced risk from infection by the Plasmodium parasite and are maintained at high frequency despite the hemopathologies that they cause. Haplotype analysis of "A-" and "Med" mutations at this locus indicates that they have evolved independently and have increased in frequency at a rate that is too rapid to be explained by random genetic drift. Statistical modeling indicates that the A- allele arose within the past 3840 to 11,760 years and the Med allele arose within the past 1600 to 6640 years. These results support the hypothesis that malaria has had a major impact on humans only since the introduction of agriculture within the past 10,000 years and provide a striking example of the signature of selection on the human genome.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tishkoff, S A -- Varkonyi, R -- Cahinhinan, N -- Abbes, S -- Argyropoulos, G -- Destro-Bisol, G -- Drousiotou, A -- Dangerfield, B -- Lefranc, G -- Loiselet, J -- Piro, A -- Stoneking, M -- Tagarelli, A -- Tagarelli, G -- Touma, E H -- Williams, S M -- Clark, A G -- G12-RR03032/RR/NCRR NIH HHS/ -- HL03321/HL/NHLBI NIH HHS/ -- T37-TW00043/TW/FIC NIH HHS/ -- New York, N.Y. -- Science. 2001 Jul 20;293(5529):455-62. Epub 2001 Jun 21.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, Biology/Psychology Building, University of Maryland, College Park, MD 20742, USA. st130@umail.umd.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11423617" target="_blank"〉PubMed〈/a〉
    Keywords: Africa/epidemiology ; Agriculture ; Alleles ; Animals ; Endemic Diseases ; Evolution, Molecular ; Female ; *Genetic Variation ; Glucosephosphate Dehydrogenase/*genetics ; Glucosephosphate Dehydrogenase Deficiency/epidemiology/*genetics ; *Haplotypes ; Humans ; Immunity, Innate/genetics ; *Linkage Disequilibrium ; Malaria/enzymology/epidemiology/*genetics ; Malaria, Falciparum/enzymology/epidemiology/genetics ; Male ; Mediterranean Region/epidemiology ; Mutation ; Plasmodium falciparum/genetics ; Polymorphism, Restriction Fragment Length ; Selection, Genetic ; Time
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2009-05-02
    Description: Africa is the source of all modern humans, but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We studied 121 African populations, four African American populations, and 60 non-African populations for patterns of variation at 1327 nuclear microsatellite and insertion/deletion markers. We identified 14 ancestral population clusters in Africa that correlate with self-described ethnicity and shared cultural and/or linguistic properties. We observed high levels of mixed ancestry in most populations, reflecting historical migration events across the continent. Our data also provide evidence for shared ancestry among geographically diverse hunter-gatherer populations (Khoesan speakers and Pygmies). The ancestry of African Americans is predominantly from Niger-Kordofanian (approximately 71%), European (approximately 13%), and other African (approximately 8%) populations, although admixture levels varied considerably among individuals. This study helps tease apart the complex evolutionary history of Africans and African Americans, aiding both anthropological and genetic epidemiologic studies.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947357/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947357/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tishkoff, Sarah A -- Reed, Floyd A -- Friedlaender, Francoise R -- Ehret, Christopher -- Ranciaro, Alessia -- Froment, Alain -- Hirbo, Jibril B -- Awomoyi, Agnes A -- Bodo, Jean-Marie -- Doumbo, Ogobara -- Ibrahim, Muntaser -- Juma, Abdalla T -- Kotze, Maritha J -- Lema, Godfrey -- Moore, Jason H -- Mortensen, Holly -- Nyambo, Thomas B -- Omar, Sabah A -- Powell, Kweli -- Pretorius, Gideon S -- Smith, Michael W -- Thera, Mahamadou A -- Wambebe, Charles -- Weber, James L -- Williams, Scott M -- 1R01GM083606-01/GM/NIGMS NIH HHS/ -- F32 HG003801/HG/NHGRI NIH HHS/ -- F32 HG003801-01A1/HG/NHGRI NIH HHS/ -- F32HG03801/HG/NHGRI NIH HHS/ -- R01 GM076637/GM/NIGMS NIH HHS/ -- R01 GM076637-01/GM/NIGMS NIH HHS/ -- R01 GM083606/GM/NIGMS NIH HHS/ -- R01 GM083606-01/GM/NIGMS NIH HHS/ -- R01 HL065234/HL/NHLBI NIH HHS/ -- R01 HL065234-01/HL/NHLBI NIH HHS/ -- R01 HL65234/HL/NHLBI NIH HHS/ -- R01GM076637/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2009 May 22;324(5930):1035-44. doi: 10.1126/science.1172257. Epub 2009 Apr 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, University of Maryland, College Park, MD 20742, USA. tishkoff@mail.med.upenn.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19407144" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; African Americans/ethnology/*genetics ; African Continental Ancestry Group/ethnology/*genetics ; Bayes Theorem ; Cluster Analysis ; Continental Population Groups/genetics ; Emigration and Immigration ; Ethnic Groups/genetics ; Gene Flow ; *Genetic Variation ; Genotype ; Geography ; Humans ; INDEL Mutation ; Language ; Microsatellite Repeats ; Phylogeny ; Polymorphism, Single Nucleotide ; Principal Component Analysis
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 2005-09-10
    Description: The gene Microcephalin (MCPH1) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage. We show that one genetic variant of Microcephalin in modern humans, which arose approximately 37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift. This indicates that it has spread under strong positive selection, although the exact nature of the selection is unknown. The finding that an important brain gene has continued to evolve adaptively in anatomically modern humans suggests the ongoing evolutionary plasticity of the human brain. It also makes Microcephalin an attractive candidate locus for studying the genetics of human variation in brain-related phenotypes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Evans, Patrick D -- Gilbert, Sandra L -- Mekel-Bobrov, Nitzan -- Vallender, Eric J -- Anderson, Jeffrey R -- Vaez-Azizi, Leila M -- Tishkoff, Sarah A -- Hudson, Richard R -- Lahn, Bruce T -- New York, N.Y. -- Science. 2005 Sep 9;309(5741):1717-20.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16151009" target="_blank"〉PubMed〈/a〉
    Keywords: Adaptation, Biological ; African Continental Ancestry Group/genetics ; Alleles ; Amino Acid Substitution ; Asian Continental Ancestry Group/genetics ; *Biological Evolution ; Brain/*anatomy & histology/physiology ; European Continental Ancestry Group/genetics ; Exons ; Gene Conversion ; Gene Frequency ; Genetic Variation ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Microcephaly/genetics ; Nerve Tissue Proteins/*genetics ; Organ Size ; Polymorphism, Genetic ; Recombination, Genetic ; *Selection, Genetic ; Sequence Analysis, DNA ; Time
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 4
    Publication Date: 2005-09-10
    Description: The gene ASPM (abnormal spindle-like microcephaly associated) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remarkably young age of the positively selected variant, suggest that the human brain is still undergoing rapid adaptive evolution.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mekel-Bobrov, Nitzan -- Gilbert, Sandra L -- Evans, Patrick D -- Vallender, Eric J -- Anderson, Jeffrey R -- Hudson, Richard R -- Tishkoff, Sarah A -- Lahn, Bruce T -- New York, N.Y. -- Science. 2005 Sep 9;309(5741):1720-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16151010" target="_blank"〉PubMed〈/a〉
    Keywords: Adaptation, Biological ; African Continental Ancestry Group ; Animals ; Asian Continental Ancestry Group/genetics ; *Biological Evolution ; Brain/*anatomy & histology/physiology ; European Continental Ancestry Group ; Gene Conversion ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Models, Genetic ; Nerve Tissue Proteins/*genetics ; Organ Size ; Pan troglodytes/genetics ; Phylogeny ; Polymorphism, Genetic ; Recombination, Genetic ; *Selection, Genetic ; Sequence Analysis, DNA ; Time
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 5
    Publication Date: 2013-07-05
    Description: Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88.8 million single nucleotide polymorphisms. Our analysis provides support for genetically distinct populations within each species, signals of gene flow, and the split of common chimpanzees into two distinct groups: Nigeria-Cameroon/western and central/eastern populations. We find extensive inbreeding in almost all wild populations, with eastern gorillas being the most extreme. Inferred effective population sizes have varied radically over time in different lineages and this appears to have a profound effect on the genetic diversity at, or close to, genes in almost all species. We discover and assign 1,982 loss-of-function variants throughout the human and great ape lineages, determining that the rate of gene loss has not been different in the human branch compared to other internal branches in the great ape phylogeny. This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822165/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822165/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Prado-Martinez, Javier -- Sudmant, Peter H -- Kidd, Jeffrey M -- Li, Heng -- Kelley, Joanna L -- Lorente-Galdos, Belen -- Veeramah, Krishna R -- Woerner, August E -- O'Connor, Timothy D -- Santpere, Gabriel -- Cagan, Alexander -- Theunert, Christoph -- Casals, Ferran -- Laayouni, Hafid -- Munch, Kasper -- Hobolth, Asger -- Halager, Anders E -- Malig, Maika -- Hernandez-Rodriguez, Jessica -- Hernando-Herraez, Irene -- Prufer, Kay -- Pybus, Marc -- Johnstone, Laurel -- Lachmann, Michael -- Alkan, Can -- Twigg, Dorina -- Petit, Natalia -- Baker, Carl -- Hormozdiari, Fereydoun -- Fernandez-Callejo, Marcos -- Dabad, Marc -- Wilson, Michael L -- Stevison, Laurie -- Camprubi, Cristina -- Carvalho, Tiago -- Ruiz-Herrera, Aurora -- Vives, Laura -- Mele, Marta -- Abello, Teresa -- Kondova, Ivanela -- Bontrop, Ronald E -- Pusey, Anne -- Lankester, Felix -- Kiyang, John A -- Bergl, Richard A -- Lonsdorf, Elizabeth -- Myers, Simon -- Ventura, Mario -- Gagneux, Pascal -- Comas, David -- Siegismund, Hans -- Blanc, Julie -- Agueda-Calpena, Lidia -- Gut, Marta -- Fulton, Lucinda -- Tishkoff, Sarah A -- Mullikin, James C -- Wilson, Richard K -- Gut, Ivo G -- Gonder, Mary Katherine -- Ryder, Oliver A -- Hahn, Beatrice H -- Navarro, Arcadi -- Akey, Joshua M -- Bertranpetit, Jaume -- Reich, David -- Mailund, Thomas -- Schierup, Mikkel H -- Hvilsom, Christina -- Andres, Aida M -- Wall, Jeffrey D -- Bustamante, Carlos D -- Hammer, Michael F -- Eichler, Evan E -- Marques-Bonet, Tomas -- 090532/Wellcome Trust/United Kingdom -- 260372/European Research Council/International -- DP1 ES022577/ES/NIEHS NIH HHS/ -- DP1ES022577-04/DP/NCCDPHP CDC HHS/ -- GM100233/GM/NIGMS NIH HHS/ -- HG002385/HG/NHGRI NIH HHS/ -- R01 GM095882/GM/NIGMS NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01 HG002385/HG/NHGRI NIH HHS/ -- R01_HG005226/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2013 Jul 25;499(7459):471-5. doi: 10.1038/nature12228. Epub 2013 Jul 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, PRBB, Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23823723" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; Animals ; Animals, Wild/genetics ; Animals, Zoo/genetics ; Asia, Southeastern ; Evolution, Molecular ; Gene Flow/genetics ; *Genetic Variation ; Genetics, Population ; Genome/genetics ; Gorilla gorilla/classification/genetics ; Hominidae/classification/*genetics ; Humans ; Inbreeding ; Pan paniscus/classification/genetics ; Pan troglodytes/classification/genetics ; Phylogeny ; Polymorphism, Single Nucleotide/genetics ; Population Density
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 2014-09-19
    Description: We sequenced the genomes of a approximately 7,000-year-old farmer from Germany and eight approximately 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had approximately 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lazaridis, Iosif -- Patterson, Nick -- Mittnik, Alissa -- Renaud, Gabriel -- Mallick, Swapan -- Kirsanow, Karola -- Sudmant, Peter H -- Schraiber, Joshua G -- Castellano, Sergi -- Lipson, Mark -- Berger, Bonnie -- Economou, Christos -- Bollongino, Ruth -- Fu, Qiaomei -- Bos, Kirsten I -- Nordenfelt, Susanne -- Li, Heng -- de Filippo, Cesare -- Prufer, Kay -- Sawyer, Susanna -- Posth, Cosimo -- Haak, Wolfgang -- Hallgren, Fredrik -- Fornander, Elin -- Rohland, Nadin -- Delsate, Dominique -- Francken, Michael -- Guinet, Jean-Michel -- Wahl, Joachim -- Ayodo, George -- Babiker, Hamza A -- Bailliet, Graciela -- Balanovska, Elena -- Balanovsky, Oleg -- Barrantes, Ramiro -- Bedoya, Gabriel -- Ben-Ami, Haim -- Bene, Judit -- Berrada, Fouad -- Bravi, Claudio M -- Brisighelli, Francesca -- Busby, George B J -- Cali, Francesco -- Churnosov, Mikhail -- Cole, David E C -- Corach, Daniel -- Damba, Larissa -- van Driem, George -- Dryomov, Stanislav -- Dugoujon, Jean-Michel -- Fedorova, Sardana A -- Gallego Romero, Irene -- Gubina, Marina -- Hammer, Michael -- Henn, Brenna M -- Hervig, Tor -- Hodoglugil, Ugur -- Jha, Aashish R -- Karachanak-Yankova, Sena -- Khusainova, Rita -- Khusnutdinova, Elza -- Kittles, Rick -- Kivisild, Toomas -- Klitz, William -- Kucinskas, Vaidutis -- Kushniarevich, Alena -- Laredj, Leila -- Litvinov, Sergey -- Loukidis, Theologos -- Mahley, Robert W -- Melegh, Bela -- Metspalu, Ene -- Molina, Julio -- Mountain, Joanna -- Nakkalajarvi, Klemetti -- Nesheva, Desislava -- Nyambo, Thomas -- Osipova, Ludmila -- Parik, Juri -- Platonov, Fedor -- Posukh, Olga -- Romano, Valentino -- Rothhammer, Francisco -- Rudan, Igor -- Ruizbakiev, Ruslan -- Sahakyan, Hovhannes -- Sajantila, Antti -- Salas, Antonio -- Starikovskaya, Elena B -- Tarekegn, Ayele -- Toncheva, Draga -- Turdikulova, Shahlo -- Uktveryte, Ingrida -- Utevska, Olga -- Vasquez, Rene -- Villena, Mercedes -- Voevoda, Mikhail -- Winkler, Cheryl A -- Yepiskoposyan, Levon -- Zalloua, Pierre -- Zemunik, Tatijana -- Cooper, Alan -- Capelli, Cristian -- Thomas, Mark G -- Ruiz-Linares, Andres -- Tishkoff, Sarah A -- Singh, Lalji -- Thangaraj, Kumarasamy -- Villems, Richard -- Comas, David -- Sukernik, Rem -- Metspalu, Mait -- Meyer, Matthias -- Eichler, Evan E -- Burger, Joachim -- Slatkin, Montgomery -- Paabo, Svante -- Kelso, Janet -- Reich, David -- Krause, Johannes -- 8DP1ES022577-04/DP/NCCDPHP CDC HHS/ -- GM100233/GM/NIGMS NIH HHS/ -- GM40282/GM/NIGMS NIH HHS/ -- HG002385/HG/NHGRI NIH HHS/ -- HG004120/HG/NHGRI NIH HHS/ -- HHSN26120080001E/PHS HHS/ -- P01 HG004120/HG/NHGRI NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01 HG002385/HG/NHGRI NIH HHS/ -- R01 HG006399/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- Intramural NIH HHS/ -- England -- Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Institute for Archaeological Sciences, University of Tubingen, Tubingen 72074, Germany. ; Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; Institute of Anthropology, Johannes Gutenberg University Mainz, Mainz D-55128, Germany. ; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. ; 1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. [2] Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. ; Archaeological Research Laboratory, Stockholm University, 114 18, Sweden. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. [3] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100049, China. ; Australian Centre for Ancient DNA and Environment Institute, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia 5005, Australia. ; The Cultural Heritage Foundation, Vasteras 722 12, Sweden. ; 1] National Museum of Natural History, L-2160, Luxembourg. [2] National Center of Archaeological Research, National Museum of History and Art, L-2345, Luxembourg. ; Department of Paleoanthropology, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tubingen, Tubingen D-72070, Germany. ; National Museum of Natural History, L-2160, Luxembourg. ; State Office for Cultural Heritage Management Baden-Wurttemberg, Osteology, Konstanz D-78467, Germany. ; Center for Global Health and Child Development, Kisumu 40100, Kenya. ; 1] Institutes of Evolution, Immunology and Infection Research, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, UK. [2] Biochemistry Department, Faculty of Medicine, Sultan Qaboos University, Alkhod, Muscat 123, Oman. ; Laboratorio de Genetica Molecular Poblacional, Instituto Multidisciplinario de Biologia Celular (IMBICE), CCT-CONICET &CICPBA, La Plata, B1906APO, Argentina. ; Research Centre for Medical Genetics, Moscow 115478, Russia. ; 1] Research Centre for Medical Genetics, Moscow 115478, Russia. [2] Vavilov Institute for General Genetics, Moscow 119991, Russia. ; Escuela de Biologia, Universidad de Costa Rica, San Jose 2060, Costa Rica. ; Institute of Biology, Research group GENMOL, Universidad de Antioquia, Medellin, Colombia. ; Rambam Health Care Campus, Haifa 31096, Israel. ; Department of Medical Genetics and Szentagothai Research Center, University of Pecs, Pecs H-7624, Hungary. ; Al Akhawayn University in Ifrane (AUI), School of Science and Engineering, Ifrane 53000, Morocco. ; Forensic Genetics Laboratory, Institute of Legal Medicine, Universita Cattolica del Sacro Cuore, Rome 00168, Italy. ; 1] Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. [2] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. ; Laboratorio di Genetica Molecolare, IRCCS Associazione Oasi Maria SS, Troina 94018, Italy. ; Belgorod State University, Belgorod 308015, Russia. ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario M5G 1L5, Canada. ; Servicio de Huellas Digitales Geneticas, School of Pharmacy and Biochemistry, Universidad de Buenos Aires, 1113 CABA, Argentina. ; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Institute of Linguistics, University of Bern, Bern CH-3012, Switzerland. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Russian Academy of Science, Siberian Branch, Novosibirsk 630090, Russia. ; Anthropologie Moleculaire et Imagerie de Synthese, CNRS UMR 5288, Universite Paul Sabatier Toulouse III, Toulouse 31000, France. ; North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677013, Russia. ; Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. ; ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA. ; Department of Ecology and Evolution, Stony Brook University, Stony Brook, New York 11794, USA. ; Department of Clinical Science, University of Bergen, Bergen 5021, Norway. ; NextBio, Illumina, Santa Clara, California 95050, USA. ; Department of Medical Genetics, National Human Genome Center, Medical University Sofia, Sofia 1431, Bulgaria. ; 1] Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. [2] Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. ; College of Medicine, University of Arizona, Tucson, Arizona 85724, USA. ; Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK. ; Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Department of Human and Medical Genetics, Vilnius University, Vilnius LT-08661, Lithuania. ; Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. ; Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch 67404, France. ; 1] Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. [2] Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. [3] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. ; 1] Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. [2] Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.). ; Gladstone Institutes, San Francisco, California 94158, USA. ; Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; Centro de Investigaciones Biomedicas de Guatemala, Ciudad de Guatemala, Guatemala. ; Research Department, 23andMe, Mountain View, California 94043, USA. ; Cultural Anthropology Program, University of Oulu, Oulu 90014, Finland. ; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam 65001, Tanzania. ; Research Institute of Health, North-Eastern Federal University, Yakutsk 677000, Russia. ; Dipartimento di Fisica e Chimica, Universita di Palermo, Palermo 90128, Italy. ; 1] Instituto de Alta Investigacion, Universidad de Tarapaca, Arica 1000000, Chile. [2] Programa de Genetica Humana ICBM Facultad de Medicina Universidad de Chile, Santiago 8320000, Chile. [3] Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile. ; Centre for Population Health Sciences, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK. ; 1] Institute of Immunology, Academy of Science, Tashkent 70000, Uzbekistan. [2]. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. [2] Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; 1] Department of Forensic Medicine, Hjelt Institute, University of Helsinki, Helsinki 00014, Finland. [2] Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, Texas 76107, USA. ; Unidade de Xenetica, Departamento de Anatomia Patoloxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenomica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galcia 15872, Spain. ; Research Fellow, Henry Stewart Group, Russell House, London WC1A 2HN, UK. ; Institute of Bioorganic Chemistry Academy of Sciences Republic of Uzbekistan, Tashkent 100125, Uzbekistan. ; Department of Genetics and Cytology, V. N. Karazin Kharkiv National University, Kharkiv 61077, Ukraine. ; 1] Instituto Boliviano de Biologia de la Altura, Universidad Mayor de San Andres, 591 2 La Paz, Bolivia. [2] UniversidadAutonoma Tomas Frias, Potosi, Bolivia. ; 1] Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. [2] Institute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk 630089, Russia. [3] Novosibirsk State University, Novosibirsk 630090, Russia. ; Basic Research Laboratory, NCI, NIH, Frederick National Laboratory, Leidos Biomedical, Frederick, Maryland 21702, USA. ; Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; 1] Lebanese American University, School of Medicine, Beirut 13-5053, Lebanon. [2] Harvard School of Public Health, Boston, Massachusetts 02115, USA. ; Department of Medical Biology, University of Split, School of Medicine, Split 21000, Croatia. ; Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. ; Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. ; Department of Biology and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. ; 1] CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India. [2] Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.). ; CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. [2] Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. [3] Estonian Academy of Sciences, Tallinn 10130, Estonia. ; Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. [3] Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA. ; 1] Institute for Archaeological Sciences, University of Tubingen, Tubingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tubingen, 72070 Tubingen, Germany. [3] Max Planck Institut fur Geschichte und Naturwissenschaften, Jena 07745, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25230663" target="_blank"〉PubMed〈/a〉
    Keywords: Agriculture/history/manpower ; Asia/ethnology ; Europe ; European Continental Ancestry Group/*classification/*genetics ; Genome, Human/*genetics ; History, Ancient ; Humans ; Population Dynamics ; Principal Component Analysis
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 7
    Publication Date: 1996-11-29
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Risch, N -- Kidd, K K -- Tishkoff, S A -- New York, N.Y. -- Science. 1996 Nov 29;274(5292):1548b-9b.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17816998" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 8
    Publication Date: 1996-03-08
    Description: Haplotypes consisting of alleles at a short tandem repeat polymorphism (STRP) and an Alu deletion polymorphism at the CD4 locus on chromosome 12 were analyzed in more than 1600 individuals sampled from 42 geographically dispersed populations (13 African, 2 Middle Eastern, 7 European, 9 Asian, 3 Pacific, and 8 Amerindian). Sub-Saharan African populations had more haplotypes and exhibited more variability in frequencies of haplotypes than the Northeast African or non-African populations. The Alu deletion was nearly always associated with a single STRP allele in non-African and Northeast African populations but was associated with a wide range of STRP alleles in the sub-Saharan African populations. This global pattern of haplotype variation and linkage disequilibrium suggests a common and recent African origin for all non-African human populations.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tishkoff, S A -- Dietzsch, E -- Speed, W -- Pakstis, A J -- Kidd, J R -- Cheung, K -- Bonne-Tamir, B -- Santachiara-Benerecetti, A S -- Moral, P -- Krings, M -- AA09379/AA/NIAAA NIH HHS/ -- HG00348/HG/NHGRI NIH HHS/ -- MH39239/MH/NIMH NIH HHS/ -- New York, N.Y. -- Science. 1996 Mar 8;271(5254):1380-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8596909" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; Alleles ; Animals ; Antigens, CD4/*genetics ; Base Sequence ; *Chromosomes, Human, Pair 12 ; *Evolution, Molecular ; Gene Frequency ; Genetic Variation ; Haplotypes ; Hominidae/*genetics ; Humans ; *Linkage Disequilibrium ; Molecular Sequence Data ; *Polymorphism, Genetic ; Primates/genetics ; Repetitive Sequences, Nucleic Acid ; Sequence Deletion
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 9
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    Unknown
    American Association for the Advancement of Science (AAAS)
    Publication Date: 1996-11-01
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tishkoff, S A -- Kidd, K K -- Risch, N -- New York, N.Y. -- Science. 1996 Nov 1;274(5288):706-7.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17735319" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 10
    Publication Date: 2015-08-08
    Description: In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568308/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568308/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sudmant, Peter H -- Mallick, Swapan -- Nelson, Bradley J -- Hormozdiari, Fereydoun -- Krumm, Niklas -- Huddleston, John -- Coe, Bradley P -- Baker, Carl -- Nordenfelt, Susanne -- Bamshad, Michael -- Jorde, Lynn B -- Posukh, Olga L -- Sahakyan, Hovhannes -- Watkins, W Scott -- Yepiskoposyan, Levon -- Abdullah, M Syafiq -- Bravi, Claudio M -- Capelli, Cristian -- Hervig, Tor -- Wee, Joseph T S -- Tyler-Smith, Chris -- van Driem, George -- Romero, Irene Gallego -- Jha, Aashish R -- Karachanak-Yankova, Sena -- Toncheva, Draga -- Comas, David -- Henn, Brenna -- Kivisild, Toomas -- Ruiz-Linares, Andres -- Sajantila, Antti -- Metspalu, Ene -- Parik, Juri -- Villems, Richard -- Starikovskaya, Elena B -- Ayodo, George -- Beall, Cynthia M -- Di Rienzo, Anna -- Hammer, Michael F -- Khusainova, Rita -- Khusnutdinova, Elza -- Klitz, William -- Winkler, Cheryl -- Labuda, Damian -- Metspalu, Mait -- Tishkoff, Sarah A -- Dryomov, Stanislav -- Sukernik, Rem -- Patterson, Nick -- Reich, David -- Eichler, Evan E -- 098051/Wellcome Trust/United Kingdom -- 1R01DK104339-01/DK/NIDDK NIH HHS/ -- 1R01GM113657-01/GM/NIGMS NIH HHS/ -- 261213/European Research Council/International -- 2R01HG002385/HG/NHGRI NIH HHS/ -- 5DP1ES022577 05/DP/NCCDPHP CDC HHS/ -- HHSN26120080001E/PHS HHS/ -- P30 ES013508/ES/NIEHS NIH HHS/ -- R01 DK104339/DK/NIDDK NIH HHS/ -- R01 GM113657/GM/NIGMS NIH HHS/ -- R01 HG002385/HG/NHGRI NIH HHS/ -- T32 GM007266/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- Intramural NIH HHS/ -- New York, N.Y. -- Science. 2015 Sep 11;349(6253):aab3761. doi: 10.1126/science.aab3761. Epub 2015 Aug 6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. ; Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. ; Department of Pediatrics, University of Washington, Seattle, WA 98119, USA. ; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA. ; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. Novosibirsk State University, Novosibirsk 630090, Russia. ; Estonian Biocentre, Evolutionary Biology Group, Tartu 51010, Estonia. Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA. ; Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; Raja Isteri Pengiran Anak Saleha (RIPAS) Hospital, Bandar Seri Begawan, Brunei Darussalam. ; Laboratorio de Genetica Molecular Poblacional, Instituto Multidisciplinario de Biologia Celular (IMBICE), Centro Cientifico y Tecnologico-Consejo Nacional de Investigaciones Cientificas y Tecnicas (CCT-CONICET) and Comision de Investigaciones Cientificas de la Provincia de Buenos Aires (CICPBA), La Plata B1906APO, Argentina. ; Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. ; Department of Clinical Science, University of Bergen, Bergen 5021, Norway. ; National Cancer Centre Singapore, Singapore. ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK. ; Institute of Linguistics, University of Bern, Bern CH-3012, Switzerland. ; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. ; Department of Medical Genetics, National Human Genome Center, Medical University Sofia, Sofia 1431, Bulgaria. ; Institut de Biologia Evolutiva [Consejo Superior de Investigaciones Cientificas-Universitat Pompeu Fabra (CSIC-UPF)], Departament de Ciencies Experimentals i de la Salut, UPF, Barcelona 08003, Spain. ; Department of Ecology and Evolution, Stony Brook University, Stony Brook, NY 11794, USA. ; Division of Biological Anthropology, University of Cambridge, Fitzwilliam Street, Cambridge CB2 1QH, UK. ; Department of Genetics, Evolution and Environment, University College London, WC1E 6BT, UK. ; University of Helsinki, Department of Forensic Medicine, Helsinki 00014, Finland. ; Estonian Biocentre, Evolutionary Biology Group, Tartu 51010, Estonia. University of Tartu, Department of Evolutionary Biology, Tartu 5101, Estonia. ; Estonian Biocentre, Evolutionary Biology Group, Tartu 51010, Estonia. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Center for Global Health and Child Development, Kisumu 40100, Kenya. ; Department of Anthropology, Case Western Reserve University, Cleveland, OH 44106-7125, USA. ; Arizona Research Laboratories Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA. ; Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. ; Integrative Biology, University of California, Berkeley, CA 94720-3140, USA. ; Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Leidos Biomedical Research, Incorporated, Frederick National Laboratory, Frederick, MD 21702, USA. ; Centre Hospitalier Universitaire (CHU) Sainte-Justine, Departement de Pediatrie, Universite de Montreal, QC H3T 1C5, Canada. ; Departments of Biology and Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. Department of Paleolithic Archaeology, Institute of Archaeology and Ethnography, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. Altai State University, Barnaul 656000, Russia. ; Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA. ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. eee@gs.washington.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26249230" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group/classification/genetics ; Animals ; *DNA Copy Number Variations ; *Evolution, Molecular ; *Gene Duplication ; Genome, Human/*genetics ; Hominidae/genetics ; Humans ; Oceanic Ancestry Group/classification/genetics ; Phylogeny ; Polymorphism, Single Nucleotide ; Population/*genetics ; Selection, Genetic ; *Sequence Deletion
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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