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Institute of Human Genetics
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Overview
Publications
(737)
Research Grants
(48)
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Journal article
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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
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