Lehrstuhl für Humangenetik

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability (2017) Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, et al. 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 Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease (2017) Chiriac MT, Buchen B, Wandersee A, Hundorfean G, Günther C, Bourjau Y, Doyle SE, et al. Journal article Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017) Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, et al. Journal article Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer (2017) Schrauder MG, Brunel-Geuder L, Häberle L, Wunderle M, Hoyer J, Wiesmann da Silva Reis A, Schulz-Wendtland R, et al. Journal article Rhinovirus species/genotypes and interferon-λ: subtypes, receptor and polymorphisms - missing pieces of the puzzle of childhood asthma? (2017) Bergauer A, Sopel N, Kro B, Vuorinen T, Xepapadaki P, Weiss ST, Blau A, et al. 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 A spinal epidural abscess due to Streptobacillus moniliformis infection following a rat bite: case report (2017) Hammer A, Wolff D, Geißdörfer W, Schrey M, Ziegler R, Steiner HH, Bogdan C Journal article Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response (2017) Berner D, Zenkel M, Pasutto F, Hoja U, Liravi P, Gusek-Schneider GC, Kruse F, et al. Journal article Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome (2017) Pasutto F, Flinter F, Rauch A, Reis A Journal article