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  • 1
    Publication Date: 2002-04-27
    Description: Reports of substantial evidence for genetic linkage of schizophrenia to chromosome 1q were evaluated by genotyping 16 DNA markers across 107 centimorgans of this chromosome in a multicenter sample of 779 informative schizophrenia pedigrees. No significant evidence was observed for such linkage, nor for heterogeneity in allele sharing among the eight individual samples. Separate analyses of European-origin families, recessive models of inheritance, and families with larger numbers of affected cases also failed to produce significant evidence for linkage. If schizophrenia susceptibility genes are present on chromosome 1q, their population-wide genetic effects are likely to be small.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Levinson, Douglas F -- Holmans, Peter A -- Laurent, Claudine -- Riley, Brien -- Pulver, Ann E -- Gejman, Pablo V -- Schwab, Sibylle G -- Williams, Nigel M -- Owen, Michael J -- Wildenauer, Dieter B -- Sanders, Alan R -- Nestadt, Gerald -- Mowry, Bryan J -- Wormley, Brandon -- Bauche, Stephanie -- Soubigou, Stephane -- Ribble, Robert -- Nertney, Deborah A -- Liang, Kung Yee -- Martinolich, Laura -- Maier, Wolfgang -- Norton, Nadine -- Williams, Hywel -- Albus, Margot -- Carpenter, Eric B -- DeMarchi, Nicola -- Ewen-White, Kelly R -- Walsh, Dermot -- Jay, Maurice -- Deleuze, Jean-Francois -- O'Neill, F Anthony -- Papadimitriou, George -- Weilbaecher, Ann -- Lerer, Bernard -- O'Donovan, Michael C -- Dikeos, Dimitris -- Silverman, Jeremy M -- Kendler, Kenneth S -- Mallet, Jacques -- Crowe, Raymond R -- Walters, Marilyn -- G9309834/Medical Research Council/United Kingdom -- G9810900/Medical Research Council/United Kingdom -- K24-MH64197/MH/NIMH NIH HHS/ -- KO2-01207/PHS HHS/ -- MH 41953/MH/NIMH NIH HHS/ -- MH 45390/MH/NIMH NIH HHS/ -- MH 52537/MH/NIMH NIH HHS/ -- MH61602/MH/NIMH NIH HHS/ -- R01-MH57314/MH/NIMH NIH HHS/ -- U01 MH46289/MH/NIMH NIH HHS/ -- U01 MH46318/MH/NIMH NIH HHS/ -- New York, N.Y. -- Science. 2002 Apr 26;296(5568):739-41.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA. dfl@mail.med.upenn.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11976456" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; Alleles ; Australia ; Canada ; Chromosomes, Human, Pair 1/*genetics ; Europe ; Female ; Genes, Recessive ; *Genetic Linkage ; *Genetic Predisposition to Disease ; Genotype ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree ; Schizophrenia/ethnology/*genetics ; United States
    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: 2002-08-06
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Roth, George S -- Lane, Mark A -- Ingram, Donald K -- Mattison, Julie A -- Elahi, Dariush -- Tobin, Jordan D -- Muller, Denis -- Metter, E Jeffrey -- New York, N.Y. -- Science. 2002 Aug 2;297(5582):811.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉National Institute on Aging, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12161648" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Aged ; Aged, 80 and over ; Aging/blood ; Animals ; Biomarkers/blood ; *Body Temperature ; Dehydroepiandrosterone Sulfate/*blood ; Diet ; Energy Intake/*physiology ; Humans ; Insulin/*blood ; Life Expectancy ; Longevity/*physiology ; Longitudinal Studies ; Macaca mulatta/*blood/*physiology ; Male ; Middle Aged
    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: 2002-09-07
    Description: Previous studies have revealed that autoantibodies, complement components, and Fc receptors each participate in the pathogenesis of erosive arthritis in K/BxN mice. However, it is not known which cellular populations are responsive to these inflammatory signals. We find that two strains of mice deficient in mast cells, W/Wv and Sl/Sld, were resistant to development of joint inflammation and that susceptibility was restored in the W/Wv strain by mast cell engraftment. Thus, mast cells may function as a cellular link between autoantibodies, soluble mediators, and other effector populations in inflammatory arthritis.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lee, David M -- Friend, Daniel S -- Gurish, Michael F -- Benoist, Christophe -- Mathis, Diane -- Brenner, Michael B -- 1R01 AR/AI46580-01/AR/NIAMS NIH HHS/ -- New York, N.Y. -- Science. 2002 Sep 6;297(5587):1689-92.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12215644" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Arthritis/*immunology/pathology ; Autoantibodies/*immunology ; Blood Transfusion ; Bone Marrow Transplantation ; Cell Degranulation ; Joints/*immunology/pathology ; Male ; Mast Cells/*immunology/transplantation ; Mice ; Mice, Inbred C57BL
    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: 2002-04-06
    Description: Higher order chromatin structure presents a barrier to the recognition and repair of DNA damage. Double-strand breaks (DSBs) induce histone H2AX phosphorylation, which is associated with the recruitment of repair factors to damaged DNA. To help clarify the physiological role of H2AX, we targeted H2AX in mice. Although H2AX is not essential for irradiation-induced cell-cycle checkpoints, H2AX-/- mice were radiation sensitive, growth retarded, and immune deficient, and mutant males were infertile. These pleiotropic phenotypes were associated with chromosomal instability, repair defects, and impaired recruitment of Nbs1, 53bp1, and Brca1, but not Rad51, to irradiation-induced foci. Thus, H2AX is critical for facilitating the assembly of specific DNA-repair complexes on damaged DNA.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721576/" 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/PMC4721576/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Celeste, Arkady -- Petersen, Simone -- Romanienko, Peter J -- Fernandez-Capetillo, Oscar -- Chen, Hua Tang -- Sedelnikova, Olga A -- Reina-San-Martin, Bernardo -- Coppola, Vincenzo -- Meffre, Eric -- Difilippantonio, Michael J -- Redon, Christophe -- Pilch, Duane R -- Olaru, Alexandru -- Eckhaus, Michael -- Camerini-Otero, R Daniel -- Tessarollo, Lino -- Livak, Ferenc -- Manova, Katia -- Bonner, William M -- Nussenzweig, Michel C -- Nussenzweig, Andre -- Z99 CA999999/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2002 May 3;296(5569):922-7. Epub 2002 Apr 4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Experimental Immunology Branch, National Cancer Institute, NIH, Bethesda, MD 20892, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11934988" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; B-Lymphocytes/immunology/physiology ; Base Sequence ; Cell Aging ; Cell Cycle ; Cells, Cultured ; *Chromosome Aberrations ; DNA Damage ; *DNA Repair ; Female ; Gene Targeting ; Histones/chemistry/*genetics/*physiology ; Immunoglobulin Class Switching ; Infertility, Male/genetics/physiopathology ; Lymphocyte Count ; Male ; Meiosis ; Mice ; Mice, Knockout ; Molecular Sequence Data ; Mutation ; Phosphorylation ; *Recombination, Genetic ; Spermatocytes/physiology ; T-Lymphocytes/immunology/physiology
    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
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    American Association for the Advancement of Science (AAAS)
    Publication Date: 2002-07-16
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Meltzer, David J -- Grayson, Donald K -- New York, N.Y. -- Science. 2002 Jul 12;297(5579):194.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12117008" target="_blank"〉PubMed〈/a〉
    Keywords: Female ; Humans ; *Longevity ; Male ; *Mothers ; *Nuclear Family
    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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  • 6
    Publication Date: 2002-12-21
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Macgregor, Stuart -- Visscher, Peter M -- Knott, Sara -- Porteous, David -- Muir, Walter -- Millar, Kirsty -- Blackwood, Douglas -- New York, N.Y. -- Science. 2002 Dec 20;298(5602):2277; author reply 2277.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute of Cell, Animal and Population Biology, Ashworth Laboratory, University of Edinburgh, West Mains Road, Edinburgh, EH9 3JT, UK. stuart.macgregor@ed.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12493873" target="_blank"〉PubMed〈/a〉
    Keywords: Chromosomes, Human, Pair 1/*genetics ; Female ; *Genetic Heterogeneity ; *Genetic Linkage ; *Genetic Predisposition to Disease ; Humans ; Lod Score ; Male ; Models, Genetic ; Pedigree ; Schizophrenia/ethnology/*genetics ; Software
    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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  • 7
    Publication Date: 2002-01-05
    Description: The presence of galactose alpha-1,3-galactose residues on the surface of pig cells is a major obstacle to successful xenotransplantation. Here, we report the production of four live pigs in which one allele of the alpha-1,3-galactosyltransferase locus has been knocked out. These pigs were produced by nuclear transfer technology; clonal fetal fibroblast cell lines were used as nuclear donors for embryos reconstructed with enucleated pig oocytes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lai, Liangxue -- Kolber-Simonds, Donna -- Park, Kwang-Wook -- Cheong, Hee-Tae -- Greenstein, Julia L -- Im, Gi-Sun -- Samuel, Melissa -- Bonk, Aaron -- Rieke, August -- Day, Billy N -- Murphy, Clifton N -- Carter, David B -- Hawley, Robert J -- Prather, Randall S -- R44 RR15198/RR/NCRR NIH HHS/ -- T32 RR07004/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 2002 Feb 8;295(5557):1089-92. Epub 2002 Jan 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Animal Science, University of Missouri, Columbia, MO 65211, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11778012" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; *Animals, Genetically Modified ; Cell Line ; *Cloning, Organism ; Embryo Transfer ; Female ; Fetus ; Fibroblasts ; Galactosyltransferases/*genetics ; *Gene Targeting ; Genetic Vectors ; Male ; Mutagenesis, Insertional ; Nuclear Transfer Techniques ; Pregnancy ; Recombination, Genetic ; Swine ; Swine, Miniature/embryology/*genetics ; Transfection
    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: 2002-07-20
    Description: A functional polymorphism in the promoter region of the human serotonin transporter gene (SLC6A4) has been associated with several dimensions of neuroticism and psychopathology, especially anxiety traits, but the predictive value of this genotype against these complex behaviors has been inconsistent. Serotonin [5- hydroxytryptamine, (5-HT)] function influences normal fear as well as pathological anxiety, behaviors critically dependent on the amygdala in animal models and in clinical studies. We now report that individuals with one or two copies of the short allele of the serotonin transporter (5-HTT) promoter polymorphism, which has been associated with reduced 5-HTT expression and function and increased fear and anxiety-related behaviors, exhibit greater amygdala neuronal activity, as assessed by BOLD functional magnetic resonance imaging, in response to fearful stimuli compared with individuals homozygous for the long allele. These results demonstrate genetically driven variation in the response of brain regions underlying human emotional behavior and suggest that differential excitability of the amygdala to emotional stimuli may contribute to the increased fear and anxiety typically associated with the short SLC6A4 allele.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hariri, Ahmad R -- Mattay, Venkata S -- Tessitore, Alessandro -- Kolachana, Bhaskar -- Fera, Francesco -- Goldman, David -- Egan, Michael F -- Weinberger, Daniel R -- New York, N.Y. -- Science. 2002 Jul 19;297(5580):400-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12130784" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Alleles ; Amygdala/*physiology ; Carrier Proteins/*genetics/physiology ; Cohort Studies ; Facial Expression ; *Fear ; Female ; Functional Laterality ; *Genetic Variation ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Membrane Glycoproteins/*genetics/physiology ; *Membrane Transport Proteins ; *Nerve Tissue Proteins ; Personality ; Polymorphism, Genetic ; *Promoter Regions, Genetic ; Serotonin/*metabolism ; Serotonin Plasma Membrane Transport Proteins ; Sex Characteristics
    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
    Publication Date: 2002-09-21
    Description: We report here the adoptive transfer, to patients with metastatic melanoma, of highly selected tumor-reactive T cells directed against overexpressed self-derived differentiation antigens after a nonmyeloablative conditioning regimen. This approach resulted in the persistent clonal repopulation of T cells in those cancer patients, with the transferred cells proliferating in vivo, displaying functional activity, and trafficking to tumor sites. This led to regression of the patients' metastatic melanoma as well as to the onset of autoimmune melanocyte destruction. This approach presents new possibilities for the treatment of patients with cancer as well as patients with human immunodeficiency virus-related acquired immunodeficiency syndrome and other infectious diseases.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1764179/" 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/PMC1764179/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Dudley, Mark E -- Wunderlich, John R -- Robbins, Paul F -- Yang, James C -- Hwu, Patrick -- Schwartzentruber, Douglas J -- Topalian, Suzanne L -- Sherry, Richard -- Restifo, Nicholas P -- Hubicki, Amy M -- Robinson, Michael R -- Raffeld, Mark -- Duray, Paul -- Seipp, Claudia A -- Rogers-Freezer, Linda -- Morton, Kathleen E -- Mavroukakis, Sharon A -- White, Donald E -- Rosenberg, Steven A -- Z01 BC010763-01/Intramural NIH HHS/ -- Z99 CA999999/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2002 Oct 25;298(5594):850-4. Epub 2002 Sep 19.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Surgery Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20902, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12242449" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; Antigens, Neoplasm ; *Autoimmunity ; CD8-Positive T-Lymphocytes/immunology ; Clone Cells ; Cytokines/secretion ; Female ; HLA-A2 Antigen/immunology ; Histocompatibility Antigens Class I/immunology ; Histocompatibility Antigens Class II/immunology ; Humans ; *Immunotherapy, Adoptive ; Interleukin-2/therapeutic use ; Lymphocyte Count ; Lymphocyte Depletion ; Lymphocytes, Tumor-Infiltrating/*immunology ; MART-1 Antigen ; Male ; Melanocytes/immunology ; Melanoma/*immunology/pathology/secondary/*therapy ; Middle Aged ; Neoplasm Proteins/immunology ; Receptors, Antigen, T-Cell, alpha-beta/immunology ; T-Lymphocytes/*immunology ; Treatment Outcome
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 10
    Publication Date: 2002-06-01
    Description: Pattern completion, the ability to retrieve complete memories on the basis of incomplete sets of cues, is a crucial function of biological memory systems. The extensive recurrent connectivity of the CA3 area of hippocampus has led to suggestions that it might provide this function. We have tested this hypothesis by generating and analyzing a genetically engineered mouse strain in which the N-methyl-D-asparate (NMDA) receptor gene is ablated specifically in the CA3 pyramidal cells of adult mice. The mutant mice normally acquired and retrieved spatial reference memory in the Morris water maze, but they were impaired in retrieving this memory when presented with a fraction of the original cues. Similarly, hippocampal CA1 pyramidal cells in mutant mice displayed normal place-related activity in a full-cue environment but showed a reduction in activity upon partial cue removal. These results provide direct evidence for CA3 NMDA receptor involvement in associative memory recall.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877140/" 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/PMC2877140/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Nakazawa, Kazu -- Quirk, Michael C -- Chitwood, Raymond A -- Watanabe, Masahiko -- Yeckel, Mark F -- Sun, Linus D -- Kato, Akira -- Carr, Candice A -- Johnston, Daniel -- Wilson, Matthew A -- Tonegawa, Susumu -- F32 MH011390/MH/NIMH NIH HHS/ -- F32 MH011390-03/MH/NIMH NIH HHS/ -- F32 MH067462/MH/NIMH NIH HHS/ -- P50-MH58880/MH/NIMH NIH HHS/ -- R01-NS32925/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2002 Jul 12;297(5579):211-8. Epub 2002 May 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Picower Center for Learning and Memory, RIKEN-MIT Neuroscience Research Center, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12040087" target="_blank"〉PubMed〈/a〉
    Keywords: Action Potentials ; Animals ; Cues ; Female ; Hippocampus/chemistry/cytology/*physiology ; Immunohistochemistry ; In Situ Hybridization ; Interneurons/physiology ; Long-Term Potentiation ; Male ; Maze Learning ; Memory/*physiology ; Mental Recall/*physiology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Models, Neurological ; Patch-Clamp Techniques ; Pyramidal Cells/chemistry/*physiology ; RNA, Messenger/analysis/genetics ; Receptors, N-Methyl-D-Aspartate/genetics/*physiology ; Recombination, Genetic ; Synapses/physiology ; Synaptic Transmission/physiology
    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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