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European Journal of Human Genetics : EJHG|August 15, 2008
A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensivesHai-Yan Zhu, Shi-Wen Wang, Li Liu, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeatMariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyRonen Spiegel, Ann Saada, Jonatan Halvardson, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Genealogical analysis as a new approach for the investigation of drug intolerance heritabilityMarc Tremblay, Tarek Bouhali, Daniel Gaudet, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1M E P van den Elzen, S R F Twigg, J A C Goos, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cellsFrauke Stanke, Andrea van Barneveld, Silke Hedtfeld, et al.
European Journal of Human Genetics : EJHG|November 15, 2013
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and EmbryologyJoyce C Harper, Joep Geraedts, Pascal Borry, et al.
European Journal of Human Genetics : EJHG|April 2, 2009
Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patientsAna Márquez, Jezabel Varadé, Gema Robledo, et al.
European Journal of Human Genetics : EJHG|April 2, 2009
The maternal aborigine colonization of La Palma (Canary Islands)Rosa Fregel, Jose Pestano, Matilde Arnay, et al.
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