European Journal of Human Genetics

Journal Abbreviation: EUR J HUM GENET
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B

Publications (87)

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Abstract

Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022) Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al. Conference contribution Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders (2022) Gumuslu E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici AB, Yildiz EP, et al. Conference contribution Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022) Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al. Conference contribution Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, et al. Journal article Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations (2022) Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, et al. Journal article Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany (2021) Richter G, Borzikowsky C, Lesch W, Semler SC, Bunnik EM, Buyx A, Krawczak M Journal article Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 (2021) Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, et al. Journal article 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 Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al. Conference contribution
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