Lehrstuhl für Humangenetik

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment (2015) Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, et al. Journal article Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations (2015) Kraus C, Rau T, Lux P, Erlenbach-Wuensch K, Loehr S, Krumbiegel M, Thiel C, et al. Journal article MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation (2015) Zahnleiter D, Hauer N, Keßler K, Uebe S, Sugano Y, Neuhauss SCF, Gießl A, et al. Journal article Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability (2015) Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, et al. Journal article The temporal expression pattern of alpha-synuclein modulates olfactory neurogenesis in transgenic mice (2015) Schreglmann SR, Regensburger M, Rockenstein E, Masliah E, Xiang W, Winkler J, Winner B Journal article Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk (2015) Chornokur G, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Amankwah EK, Qu X, et al. Journal article Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery (2015) Dimova V, Loetsch J, Hühne K, Winterpacht A, Heesen M, Parthum A, Weber PG, et al. Journal article Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 (2015) Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, et al. Journal article Pattern of Functional TTX-Resistant Sodium Channels Reveals a Developmental Stage of Human iPSC- and ESC-Derived Nociceptors (2015) Eberhardt E, Havlicek S, Schmidt D, Link A, Neacsu C, Kohl Z, Hampl M, et al. Journal article MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects (2015) Hoffjan S, Epplen JT, Reis A, Abou Jamra R Journal article