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European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retrieverMario Van Poucke, Valentine Martlé, Leen Van Brantegem, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
Genome-wide association studies identify genetic loci for low von Willebrand factor levelsJanine van Loon, Abbas Dehghan, Tang Weihong, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
A method for analyzing multiple continuous phenotypes in rare variant association studies allowing for flexible correlations in variant effectsJianping Sun, Karim Oualkacha, Vincenzo Forgetta, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
Association of the IGF1 gene with fasting insulin levelsSara M Willems, Belinda K Cornes, Jennifer A Brody, et al.
European Journal of Human Genetics : EJHG|January 21, 2016
Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS studyAmandine I Garcia, Monique Buisson, Francesca Damiola, et al.
European Journal of Human Genetics : EJHG|October 1, 2015
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophyYu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
FAPI: Fast and accurate P-value Imputation for genome-wide association studyJohnny S H Kwan, Miao-Xin Li, Jia-En Deng, et al.
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