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 (81)

close-button

Types of publications

Journal article
Unpublished / Preprint

Publication year

From
To

Abstract

Phenotypic presentation of two additional individuals with heterozygous variants in BRSK2 (2020) Kemmer H, Popp B, Verloes A, Horn D, Holtgrewe M, Zweier C, Ehmke N Conference contribution Identification and characterization of a GLMN splice site variant in a three-generation-family with glomuvenous malformations (2020) Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M Conference contribution Investigating PHF13 induced infertility through single cell transcriptomics and non-vertebrate model organisms (2020) Bosch E, Lukassen S, Gregor A, Ekici AB, Zweier C, Winterpacht A Conference contribution Further clinical and molecular delineation of Alazami syndrome associated with variants in LARP7 (2020) Gumuslu E, Karaer K, Gumus E, Ekici AB, Kraus C, Reis A Conference contribution Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Conference contribution Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020) Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Identification of the deregulated NEK1 protein network in skeletal ciliopathies (2020) Vogl C, Keßler K, Gießl A, Kirchner P, Büttner C, Ekici AB, Reis A, Thiel CT Conference contribution Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020) Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution
1 2 3 4 5 6 ... 9