Christiane Zweier

Medizinische Fakultät

Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al. Conference contribution Expanding the spectrum of WDR62 mutations : description of new cases (2020) Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al. Conference contribution SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders (2020) Fliedner A, Kirchner P, Agre KE, De Graaf-Van De Laar I, Clarke MD, Davis-Keppen L, Ekici AB, et al. Conference contribution Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster (2020) Gregor A, Meerbrei T, Distel L, Gerstner T, Gupta A, Toutain A, Lynch SA, et al. Conference contribution Exome Pool-Seq Reloaded (2020) Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al. Conference contribution Phenotypic presentation of two additional individuals with heterozygous variants in BRSK2 (2020) Kemmer H, Popp B, Verloes A, Horn D, Holtgrewe M, Zweier C, Ehmke N Conference contribution Identification and characterization of a GLMN splice site variant in a three-generation-family with glomuvenous malformations (2020) Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M Conference contribution Investigating PHF13 induced infertility through single cell transcriptomics and non-vertebrate model organisms (2020) Bosch E, Lukassen S, Gregor A, Ekici AB, Zweier C, Winterpacht A 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