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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
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Publications
(514)
Research Grants
(37)
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SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres (2024)
Bolsinger M, Drobny A, Wilfling S, Reischl S, Krach F, Moritz R, Balta D, et al.
Journal article
Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer (2024)
Zhang S, Yun D, Yang H, Eckstein M, Elbait GD, Zhou Y, Lu Y, et al.
Journal article
Chronic silencing of subsets of cortical layer 5 pyramidal neurons has a long-term influence on the laminar distribution of parvalbumin interneurons and the perineuronal nets (2024)
Szabó FP, Sigutova V, Schneider AM, Hoerder-Suabedissen A, Molnár Z
Journal article
Further delineation of the SCAF4-associated neurodevelopmental disorder (2024)
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al.
Journal article
Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. (2024)
Rauch A, Reis A
Journal article
Blockade of the CD47/SIRPα checkpoint axis potentiates the macrophage-mediated antitumor efficacy of tafasitamab. (2024)
Biedermann A, Patra-Kneuer M, Mougiakakos D, Büttner-Herold M, Mangelberger-Eberl D, Berges J, Kellner C, et al.
Journal article
ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024)
van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al.
Journal article
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024)
Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al.
Journal article
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024)
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al.
Journal article
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A (2024)
Mammadova D, Kraus C, Leis T, Popp B, Zweier C, Reis A, Trollmann R
Journal article
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