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European Journal of Human Genetics : EJHG|February 16, 2018
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletionCristina Mei, Evelina Fedorenko, David J Amor, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancersLisa Golmard, Laurent Castéra, Sophie Krieger, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Next-generation sequencing of patients with congenital anosmiaAnna Alkelai, Tsviya Olender, Catherine Dode, et al.
European Journal of Human Genetics : EJHG|February 15, 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain diseaseRick Kamps, Radek Szklarczyk, Tom E Theunissen, et al.
European Journal of Human Genetics : EJHG|February 15, 2018
Improved estimation of SNP heritability using Bayesian multiple-phenotype modelsNajla Saad Elhezzani
European Journal of Human Genetics : EJHG|February 15, 2018
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative studyMichael P Mackley, Edward Blair, Michael Parker, et al.
European Journal of Human Genetics : EJHG|November 23, 2017
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory studyLea Godino, Leigh Jackson, Daniela Turchetti, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndromeRaphael Carapito, Alice Goldenberg, Nicodème Paul, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.
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