Lehrstuhl für Humangenetik

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 Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis (2017) Brackmann F, Coras R, Rössler K, Kraus C, Rompel O, Trollmann R 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 Association analysis identifies 65 new breast cancer risk loci (2017) Michailidou K, Lindstrom S, Dennis J, Beesley J, Hui S, Kar S, Lemacon A, 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