Christiane Zweier

Medizinische Fakultät

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis (2015) Agha Z, Iqbal Z, Kleefstra T, Zweier C, Pfundt R, Qamar R, Van Bokhoven H, Willemsen MH Journal article Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome (2015) Kuechler A, Zink AM, Wieland T, Luedecke HJ, Cremer K, Salviati L, Magini P, et al. Journal article Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection (2015) Omilusik KD, Best JA, Yu B, Goossens S, Weidemann A, Nguyen JV, Seuntjens E, et al. Journal article Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling (2015) Vasileiou G, Ekici AB, Urebe S, Zweier C, Hoyer J, Engels H, Behrens J, et al. Journal article Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems (2014) Vulto-Van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, De Rocker N, Newhall KJ, Raghavan R, et al. Journal article Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila (2014) Gregor A, Kramer JM, Van Der Voet M, Schanze I, Uebe S, Donders R, Reis A, et al. Journal article CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration (2014) Schaffer AE, Eggens VRC, Caglayan AO, Reuter M, Scott E, Coufal NG, Silhavy JL, et al. Journal article Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (2014) Van Rahden VA, Rau I, Fuchs S, Kosyna FK, De Almeida HL, Fryssira H, Isidor B, et al. Journal article A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 (2014) Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, et al. Journal article Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations (2014) Basel-Vanagaite L, Yilmaz R, Tang S, Reuter M, Rahner N, Grange DK, Mortenson M, et al. Journal article