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European Journal of Human Genetics : EJHG|November 30, 2017
NMNAT1 variants cause cone and cone-rod dystrophyBenjamin M Nash, Richard Symes, Himanshu Goel, et al.
European Journal of Human Genetics : EJHG|December 12, 2017
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotoniaAngela T Morgan, Leenke van Haaften, Karen van Hulst, et al.
European Journal of Human Genetics : EJHG|December 5, 2017
Recent developments in genetics and medically assisted reproduction: from research to clinical applicationsJ C Harper, K Aittomäki, P Borry, et al.
European Journal of Human Genetics : EJHG|January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneityElena Cellini, Annalisa Vetro, Valerio Conti, et al.
European Journal of Human Genetics : EJHG|February 1, 2019
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypesMariana Moysés-Oliveira, Adriana Di-Battista, Malú Zamariolli, et al.
European Journal of Human Genetics : EJHG|December 18, 2019
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variantClara S H Tan, Su Fen Ang, Su Chi Lim
European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
European Journal of Human Genetics : EJHG|February 25, 2018
Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudesErin Turbitt, Megan C Roberts, Rebecca A Ferrer, et al.
European Journal of Human Genetics : EJHG|February 25, 2018
A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association studyDan Zhou, Dandan Zhang, Xiaohui Sun, et al.
European Journal of Human Genetics : EJHG|February 17, 2018
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairmentSebastien P F JanssensdeVarebeke, Guy Van Camp, Nils Peeters, et al.
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