Christiane Zweier

Medizinische Fakultät

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment (2017) Reuter M, Krumbiegel M, Schlueter G, Ekici AB, Reis A, Zweier C Journal article Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome (2017) Kasper B, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C Journal article FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum (2017) Reuter M, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, et al. Journal article STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al. Journal article Exome Pool-Seq in neurodevelopmental disorders (2017) Popp B, Ekici AB, Thiel C, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C Journal article DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome (2017) Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, et al. Journal article Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017) Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al. Journal article Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature (2017) Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, et al. Journal article Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency (2016) Saunier C, Stove SI, Popp B, Gerard B, Blenski M, Ahmew N, De Bie C, et al. Journal article