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European Journal of Human Genetics : EJHG|June 13, 2019
Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network SurveyDorota Rowczenio, Yael Shinar, Isabella Ceccherini, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016Maria Yakoreva, Tiina Kahre, Riina Žordania, et al.
European Journal of Human Genetics : EJHG|August 26, 2018
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent formsDanya F Vears, Emilia Niemiec, Heidi Carmen Howard, et al.
European Journal of Human Genetics : EJHG|September 27, 2018
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expressionMałgorzata Rydzanicz, Małgorzata Wachowska, Erik C Cook, et al.
European Journal of Human Genetics : EJHG|September 27, 2018
Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlandersArya Iranmehr, Tsering Stobdan, Dan Zhou, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwideFrancesca Fusco, Valeria Valente, Dario Fergola, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Sex specific associations in genome wide association analysis of renal cell carcinomaRuhina S Laskar, David C Muller, Peng Li, et al.
European Journal of Human Genetics : EJHG|June 26, 2019
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac deathFlorence Fellmann, Carla G van El, Philippe Charron, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
European Journal of Human Genetics : EJHG|April 14, 2023
The expanding genetic and clinical landscape associated with Meier-Gorlin syndromeEmily Nielsen-Dandoroff, Mischa S G Ruegg, Louise S Bicknell
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