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European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Genome-wide analysis identifies a role for common copy number variants in specific language impairmentNuala H Simpson, Fabiola Ceroni, Rose H Reader, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegiaEmil Ylikallio, Doyoun Kim, Pirjo Isohanni, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studiesClaire Dandine-Roulland, Hervé Perdry
European Journal of Human Genetics : EJHG|January 15, 2015
Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populationsPatricia Balaresque, Nicolas Poulet, Sylvain Cussat-Blanc, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy managementBaran Bayindir, Luc Dehaspe, Nathalie Brison, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarrayRobin Z Hayeems, Ny Hoang, Sebastien Chenier, et al.
European Journal of Human Genetics : EJHG|July 30, 2015
Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issuesSandra Janssens, Davit Chokoshvilli, Carmen Binst, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))Nina Marchi, Serge Pissard, Manuel Cliquennois, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndromeHannes Steinkellner, Julia Etzler, Laura Gogoll, et al.
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