Lehrstuhl für Humangenetik

Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020) Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Identification of the deregulated NEK1 protein network in skeletal ciliopathies (2020) Vogl C, Keßler K, Gießl A, Kirchner P, Büttner C, Ekici AB, Reis A, Thiel CT Conference contribution Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020) Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution Enriched environment ameliorates adult hippocampal neurogenesis deficits in Tcf4 haploinsufficient mice (2020) Braun K, Häberle B, Wittmann MT, Lie DC Journal article Loss of PHF6 leads to aberrant development of human neuron-like cells (2020) Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C Journal article Unique signatures of stress-induced senescent human astrocytes (2020) Simmnacher K, Krach F, Schneider Y, Alecu JE, Mautner L, Klein P, Roybon L, et al. Journal article