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European Journal of Human Genetics : EJHG|April 19, 2021
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine stormsHui Luo, Dan Liu, Wenbing Liu, et al.
European Journal of Human Genetics : EJHG|April 12, 2021
What people really change after genetic testing (GT) performed in private labs: results from an Italian studySerena Oliveri, Clizia Cincidda, Giulia Ongaro, et al.
European Journal of Human Genetics : EJHG|October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsCamille Leroy, Emilie Landais, Sylvain Briault, et al.
European Journal of Human Genetics : EJHG|May 12, 2023
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing lossChristel Vaché, Nicolas Cubedo, Luke Mansard, et al.
European Journal of Human Genetics : EJHG|May 17, 2023
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathySophie L V M Stroeks, Debby Hellebrekers, Godelieve R F Claes, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platformErika Della Mina, Roberto Ciccone, Francesca Brustia, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Measuring informed choice in population-based reproductive genetic screening: a systematic reviewAlice Grace Ames, Sylvia Ann Metcalfe, Alison Dalton Archibald, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relativesChris Jacobs, Caroline Dancyger, Jonathan A Smith, et al.
European Journal of Human Genetics : EJHG|May 26, 2023
An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statisticsQiaolan Deng, Chi Song, Shili Lin
European Journal of Human Genetics : EJHG|August 1, 2020
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactionsMichael Erlichster, Justin Bedo, Efstratios Skafidas, et al.
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