Lehrstuhl für Humangenetik


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica (2017) Lobo-Prada T, Sticht H, Bogantes-Ledezma S, Ekici AB, Uebe S, Reis A, Leal A Journal article EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction (2017) Mielenz D, Reichel M, Jia T, Quinlan EB, Stöckl T, Mettang M, Zilske D, et al. Journal article, Original article IFN-α/IFN-λ responses to respiratory viruses in paediatric asthma (2017) Bergauer A, Sopel N, Kross B, Vuorinen T, Xepapadaki P, Weiss ST, Blau A, et al. Journal article Prenatal androgen receptor activation determines adult alcohol and water drinking in a sex-specific way (2017) Huber S, Zoicas I, Reichel M, Mühle C, Büttner C, Ekici AB, Eulenburg V, et al. Journal article New Therapeutic Approaches in Inflammatory Diseases of the Eye - Targeting Lymphangiogenesis and Cellular Immunity: Research Unit FOR 2240 Presents Itself (2017) Cursiefen C, Bock F, Clahsen T, Regenfuss B, Reis A, Steven P, Heindl LM, et al. Journal article Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants (2017) Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, et al. Journal article Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017) Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al. Journal article Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature (2017) Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, et al. Journal article Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients (2017) Oppelt P, Mueller A, Stephan L, Dittrich R, Lermann J, Büttner C, Ekici AB, et al. Journal article GSK3ss-Dependent Dysregulation of Neurodevelopment in SPG11-Patient Induced Pluripotent Stem Cell Model (2016) Mishra HK, Prots I, Havlicek S, Kohl Z, Pérez-Brangulí F, Börstler T, Anneser L, et al. Journal article