Lehrstuhl für Arabistik und Semitistik

Young woman with multiple bilateral ovarian masses Junge Frau mit multiplen Raumforderungen beider Ovarien (2025) Hosten AK, Homeister S, Strauß HG, Fathke C, Reis A, Wallwiener M Journal article Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease (2025) Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CV, Mavraki E, Elbracht M, et al. Journal article Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (2025) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, et al. Journal article Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025) Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, et al. Journal article The Genetics of Intelligence (2025) Reis A, Spinath FM Journal article, Review article Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. (2025) De Hayr L, Blok LE, Dias KR, Long J, Begemann A, Moir RD, Willis IM, et al. Journal article Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome (2024) Chiu C, Küchler A, Depienne C, Preuße C, Marina AD, Reis A, Kaiser FJ, et al. Journal article Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer (2024) Fasching P, Hu C, Hart SN, Rübner M, Polley EC, Gnanaolivu RD, Hartkopf AD, et al. Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article, Erratum