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European Journal of Human Genetics : EJHG|March 8, 2022
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative researchFaye Johnson, Fiona Ulph, Rhona MacLeod, et al.
European Journal of Human Genetics : EJHG|March 1, 2022
Healthcare professionals' perceptions of implementing a decision support intervention for cascade screening for beta-thalassemia in PakistanShenaz Ahmed, Hussain Jafri, Wajeeha Naseer Ahmed, et al.
European Journal of Human Genetics : EJHG|March 29, 2022
Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic reviewEbony Richardson, Alison McEwen, Toby Newton-John, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experienceSofia Douzgou, Janet Dell'Oro, Cristina Rodriguez Fonseca, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertilityShushu Zhou, Huan Wu, Jintao Zhang, et al.
European Journal of Human Genetics : EJHG|June 6, 2019
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair catTom Schipper, Mario Van Poucke, Laurien Sonck, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
European Journal of Human Genetics : EJHG|March 11, 2010
Italian appeal court: a genetic predisposition to commit murder?Francesca Forzano, Pascal Borry, Anne Cambon-Thomsen, et al.
European Journal of Human Genetics : EJHG|January 28, 2010
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted lociClaire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, et al.
European Journal of Human Genetics : EJHG|December 10, 2009
Enhancer elements upstream of the SHOX gene are active in the developing limbClaudia Durand, Fiona Bangs, Jason Signolet, et al.
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