Institute of Human Genetics


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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Unpublished / Preprint

Publication year

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Abstract

Journal

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016) Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, et al. Journal article Specific phenotype and function of CD56-expressing innate immune cell subsets in human thymus (2016) Gerstner S, Köhler W, Heidkamp GF, Purbojo A, Uchida S, Ekici AB, Heger L, et al. Journal article Kdm6b and Pmepa1 as Targets of Bioelectrically and Behaviorally Induced Activin A Signaling (2016) Link A, Kurinna S, Havlicek S, Lehnert S, Reichel M, Kornhuber J, Winner B, et al. Journal article Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016) Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, et al. Journal article Rhinovirus inhibits IL-17A and the downstream immune responses in allergic asthma (2016) Graser A, Ekici AB, Sopel N, Melichar VO, Zimmermann T, Papadopoulos NG, Taka S, et al. Journal article Replication of a distinct psoriatic arthritis risk variant at the IL23R locus (2016) Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, et al. Journal article Clinical delineation of the PACS1-related syndrome - Report on 19 patients (2016) Schuurs-Hoeijmakers JHM, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, et al. Journal article, Report Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients (2016) Loehr S, Uebe S, Behrens F, Boehm B, Koehm M, Traupe H, Oji V, et al. Journal article Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article Five endometrial cancer risk loci identified through genome-wide association analysis (2016) Cheng THT, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, Lewis A, et al. Journal article