Christiane Zweier

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Medizinische Fakultät

Project Leads

(2)

Publications

(128)

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 De novo mutations in the genome organizer CTCF cause intellectual disability (2013) Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, et al. Journal article Biallelic SEMA3A defects cause a novel type of syndromic short stature (2013) Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, et al. Journal article

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