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 (86)

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Abstract

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 Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al. Conference contribution Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases (2019) Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, et al. Conference contribution