Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy (2014) Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Sticht H, et al. Journal article HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders (2014) Reuter M, Sass JO, Leis T, Koehler J, Mayr JA, Feichtinger RG, Rauh M, 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 Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome (2014) Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, et al. Journal article Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin (2014) Ekici AB, Hackenbeck T, Moriniere V, Panness A, Büttner M, Uebe S, Janka RM, 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 The clinical significance of small copy number variants in neurodevelopmental disorders (2014) Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al. Journal article The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype (2014) Raaz-Schrauder D, Ekici AB, Klinghammer L, Stumpf C, Achenbach S, Herrmann M, Reis A, Garlichs C 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