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European Journal of Human Genetics : EJHG|November 18, 2010
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder populationDimitar N Azmanov, Stanislava Dimitrova, Laura Florez, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
Clinical presentation and mutations in Danish patients with Wilson diseaseLisbeth Birk Møller, Nina Horn, Tina Dysgaard Jeppesen, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral developmentElizabeth J Bhoj, Purita Ramos, Linda A Baker, et al.
European Journal of Human Genetics : EJHG|March 17, 2011
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)C M Laine, B D Chung, M Susic, et al.
European Journal of Human Genetics : EJHG|March 17, 2011
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidenceElaine A Dunlop, Kayleigh M Dodd, Stephen C Land, et al.
European Journal of Human Genetics : EJHG|March 10, 2011
von Hippel-Lindau disease: a clinical and scientific reviewEamonn R Maher, Hartmut Ph Neumann, Stéphane Richard
European Journal of Human Genetics : EJHG|March 10, 2011
Children, biobanks and the scope of parental consentKristien Hens, Jean-Jacques Cassiman, Herman Nys, et al.
European Journal of Human Genetics : EJHG|March 10, 2011
Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndromeChirag Patel, Lisa Cooper-Charles, Dominic J McMullan, et al.
European Journal of Human Genetics : EJHG|March 10, 2011
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9qJudith B A van de Meerakker, Klaartje van Engelen, Inge B Mathijssen, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in FinlandTiina Suominen, Linda L Bachinski, Satu Auvinen, et al.
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