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Unpublished / Preprint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

PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (2021) Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, et al. Journal article Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability (2021) Neuser S, Brechmann B, Heimer G, Broesse I, Schubert S, O'Grady L, Zech M, et al. Journal article The complement system drives local inflammatory tissue priming by metabolic reprogramming of synovial fibroblasts (2021) Friščić J, Böttcher M, Reinwald C, Bruns H, Wirth B, Popp S, Walker KI, et al. Journal article, Original article Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021) Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al. Journal article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany (2021) Haskamp S, Horowitz J, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, et al. Journal article Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Journal article Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers (2021) Glubb DM, Thompson DJ, Aben KKH, Alsulimani A, Amant F, Annibali D, Attia J, et al. Journal article DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Crnkl1 is a highly selective regulator of intron-retaining HIV-1 and cellular mrnas (2021) Xiao H, Wyler E, Milek M, Grewe B, Kirchner P, Ekici AB, Silva ABOV, et al. Journal article