Lehrstuhl für Arabistik und Semitistik

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature (2024) Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, 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 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