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)
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