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  • 1
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    The @journal of physical chemistry 〈Washington, DC〉 5 (1901), S. 149-150 
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    The @journal of physical chemistry 〈Washington, DC〉 5 (1901), S. 149-149 
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype. Here, we show ...
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  • 4
    ISSN: 1437-3262
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences
    Description / Table of Contents: Abstract Marine sediment location spread over a wide range of environments contain evidence of anoxic intervals dated early Late Cretaceous. In the north and south deep Atlantic deposition of anoxic layers followed a widespread sedimentary hiatus of Middle Cenomanian age. In the eastern-central parts of the Atlantic (Angola and Cape Verde basins) rythmic deposition of anoxic layers commenced in the Latermost Cenomanian and lasted as late as the Santonian. In the rest of the deep north Atlantic on the contrary anoxia duration was probably limited to the Cenomanian-Turonian boundary or thereabout. Late Cretaceous anoxic layer is not yet recorded south of the Walvis-Rio Grande Rises in the South Atlantic. In a number of locations in marginal and epicontinental seas in America, Africa and Europe previously related to the Tethys a few anoxic layers dated Cenomanian-Turonian are intercalated within thick oxic series. Coniacian to Santonian anoxic layers are limited to small areas in epeiric and marginal domains in the southern Alps, North Africa, Israel, North America (Santonian in the Western Interior) and (?) Australia all with no clear link with any ocean-wide event of early Senonian age. Rythmical alternation of oxic/anoxic layers helps to document the emplacement of sediment and disposition of anaerobic water masses. Development of anoxia at about the Cenomanian-Turonian boundary induced abnormal concentration of trace metals and a partial renewal of the marine fauna. To understand the relationship between a number of factors such as sea-level changes, climates, terrestrial influences, biogenic fertility, sedimentation rates, etc., is essential to explain of the very peculiar anoxic global event of early Late Cretaceous age.
    Abstract: Résumé Le Crétacé supérieur a été une période favorable au développement de milieux anoxiques depuis les régions profondes de l'Atlantique et de la Tethys occidentale jusqu'aux mers épicontinentales adjacentes. Après une lacune sédimentaire datée du Cénomanien moyen et générale dans l'Atlantique, l'anaérobiose a duré de manière épisodique depuis le Cénomanien terminal jusqu'au Santonien dans la partie orientale de l'océan (bassins du Cap Vert et de l'Angola). Ailleurs, elle a été restreinte dans le temps aux alentours de la limite Cénomanien-Turonien, sauf au Sud de la ride Rio-Grande Walvis où elle n'a pas été reconnue encore par forage. Plusieurs couches de sédiments anoxiques présentes dans des séries plus ou moins épaisses, déposées en milieu aérobie sont connues également à la limite Cénomanien-Turonien, dans les mers épicontinentales fossiles d'Amérique, d'Afrique et d'Europe. Il semble donc que l'événement anoxique commençant à l'extrême fin du Cénomanien ait un caractère global. Des dépôts anoxiques d'âge Sénonien inférieur ont été repérés aussi sur des surfaces limitées dans les Alpes méridionales, en Afrique du Nord, en Amérique du Nord (Santonien du Western Interior Basin), en Israel et peut-être en Australie. L'êtude des alternances de couches aérobies et anaérobies de différents types permet la reconstitution de la disposition des masses d'eau anoxiques au moment du dépôt. L'événement anoxique du Cénomanien-Turonien a déterminé diverses anomalies géochimiques dans les sédiments ainsi qu'un renouvellement d'une partie de la faune benthique et planctonique. La compréhension des relations mutuelles complexes entre les différents facteurs qui régissent les caractéristiques des milieux océaniques est essentielle pour interpréter un événement aussi singulier que l'anoxie globale datée des alentours de la limite Cénomanien-Turonien.
    Notes: Zusammenfassung Während der oberen Kreide entstanden bevorzugt anoxische Bedingungen, sowohl in den tiefen Gebieten des Atlantiks und der westlichen Tethys, als auch in den naheliegenden epikontinentalen Meeren. Nach der im ganzen Atlantik vorkommenden sedimentären Lücke des mittleren Cenomans, dauerte die Anaerobiose, mit mehreren Unterbrechungen, vom obersten Cenoman bis zum Santon, jedenfalls im östlichen Teil des Ozeans (Cape-Verde und Angola Becken). Andernorts war sie zeitlich auf den Grenzbereich zwischen Cenoman und Turon beschränkt, außer im Süden des Rio Grande-Walvis Rückens, wo sie durch Bohrungen noch nicht festgestellt wurde. In den epikontinentalen Teilen des Paläo-ozeans Amerikas, Afrikas u. Europas kennt man auch mehrere anoxische Sedimentlagen, die in mächtige oxische Ablagerungen eingebettet sind. Also scheint das im obersten Cenoman beginnende anoxische Ereignis eine globale Bedeutung zu besitzen. Kleinere Flächen von anoxischen Ablagerungen des unteren Senons wurden auch in den südlichen Alpen, in Nordafrika, in Israel und vielleicht in Australien entdeckt. Sie stehen aber in keinem weltweiten Zusammenhang. Aus der Untersuchung der Wechsellagerung der oxischen und anoxischen Schichten läßt sich die Lage der oxischen Wassermassen zur Zeit der Ablagerung bestimmen. Das anoxische Cenoman-Turon Ereignis bewirkte verschiedene geochemische Unregelmäßigkeiten in den Sedimenten und hatte gleichfalls eine partielle Erneuerung der gesamten Fauna zur Folge. Um ein solch seltsames Ereignis, wie diese globale Anoxie um die Wende Cenoman-Turon zu verstehen, ist es nötig, das Zusammenwirken verschiedener Faktoren, wie Meeresspiegel- und Klimaschwankungen, kontinentale Einflüsse, organische Produktivität, Sedimentationsraten usw. zu erfassen.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 47 (1979), S. 233-237 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report studies of four patients with pyruvate dehydrogenase complex (PDH) deficiency caused by mutations in the E1α subunit. Two unrelated male patients presented with Leigh syndrome and a R263G missense mutation in exon 8. This mutation has previously been described in males with the same phenotype. The two other patients had different novel mutations: (1) an 8-bp deletion at the C-terminus (exon 11) was found in one allele of a young girl suffering from microcephaly and (2) a C88S missense mutation (exon 3) in a boy who only presented with motor neuropathy. These mutations were not found in the mothers of any of the four cases. Immunoblot analysis revealed decreased immunoreactivity for the E1α and E1β subunits in three out of the four patients. These findings confirm that: (1) PDH deficiencies are genetically heterogeneous, (2) the R263G mutation is more frequent in male cases than are other mutations and this amino acid is a hot spot for gene mutations, (3) the last eight amino acids may be important for the conformation of the tetrameric E1-PDH enzyme, and (4) the amino acids at positions 88, 263 and 382–387 are essential for the linking of the α subunit with the β subunit and for the activity of the holoenzyme.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia resulting in a particular, recognizable facies and osteoarticular abnormalities. Some of us have recently shown genetic linkage of SJS to a locus on 1p34–p36.1 in five families. Here, we show by homozygosity mapping and segregation analysis that eight new families are most likely linked to the SJS locus on chromosome 1, confirming the localization of SJS to chromosome 1p and suggesting genetic homogeneity. Recombination events reduced the SJS locus from a genetic interval of 8 to 3 cM, which should facilitate the identification of the SJS gene. Low clinical variability was observed between the studied families, except for osteoarticular abnormalities. Since the severity and the location of osteoarticular abnormalities varied from one individual to another, even in the same families, other factors than the SJS gene itself, genetic or epigenetic, might contribute to the phenotype.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1618-2650
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 10
    Publication Date: 2018-03-26
    Description: Human listeners excel at forming high-level social representations about each other, even from the briefest of utterances. In particular, pitch is widely recognized as the auditory dimension that conveys most of the information about a speaker’s traits, emotional states, and attitudes. While past research has primarily looked at the influence of mean pitch, almost nothing is known about how intonation patterns, i.e., finely tuned pitch trajectories around the mean, may determine social judgments in speech. Here, we introduce an experimental paradigm that combines state-of-the-art voice transformation algorithms with psychophysical reverse correlation and show that two of the most important dimensions of social judgments, a speaker’s perceived dominance and trustworthiness, are driven by robust and distinguishing pitch trajectories in short utterances like the word “Hello,” which remained remarkably stable whether male or female listeners judged male or female speakers. These findings reveal a unique communicative adaptation that enables listeners to infer social traits regardless of speakers’ physical characteristics, such as sex and mean pitch. By characterizing how any given individual’s mental representations may differ from this generic code, the method introduced here opens avenues to explore dysprosody and social-cognitive deficits in disorders like autism spectrum and schizophrenia. In addition, once derived experimentally, these prototypes can be applied to novel utterances, thus providing a principled way to modulate personality impressions in arbitrary speech signals.
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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