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European Journal of Human Genetics : EJHG|March 24, 2011
Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMDAude Saint-Pierre, Jean-Marc Kaufman, Agnes Ostertag, et al.
European Journal of Human Genetics : EJHG|June 2, 2019
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorderGerarda Cappuccio, Sergio Attanasio, Marianna Alagia, et al.
European Journal of Human Genetics : EJHG|October 14, 2018
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profileSara Roos, Kalliopi Sofou, Carola Hedberg-Oldfors, et al.
European Journal of Human Genetics : EJHG|October 14, 2018
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assayAlexandra Yu Filatova, Tatiana A Vasilyeva, Andrey V Marakhonov, et al.
European Journal of Human Genetics : EJHG|June 23, 2019
A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary carePaul C D Bank, Jesse J Swen, Rowena D Schaap, et al.
European Journal of Human Genetics : EJHG|June 23, 2019
Global, pathway and gene coverage of three Illumina arrays with respect to inflammatory and immune-related pathwaysViola Tozzi, Albert Rosenberger, Dieter Kube, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylationJaak Jaeken, Dirk J Lefeber, Gert Matthijs
European Journal of Human Genetics : EJHG|July 21, 2016
On the reconciliation of missing heritability for genome-wide association studiesGuo-Bo Chen
European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypesLude Franke, Hanane el Bannoudi, Diahann T S L Jansen, et al.
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