Christiane Zweier

Medizinische Fakultät

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 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 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 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 QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum (2020) Foehrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, et al. Journal article Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article