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European Journal of Human Genetics : EJHG|April 25, 2013
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumoursJuliette Aury-Landas, Gaëlle Bougeard, Hélène Castel, et al.European Journal of Human Genetics : EJHG|March 28, 2013
Joint detection of association, imprinting and maternal effects using all children and their parentsMiao Han, Yue-Qing Hu, Shili LinEuropean Journal of Human Genetics : EJHG|June 6, 2013
Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victimsChristian van der Werf, Astrid T Onderwater, Irene M van Langen, et al.European Journal of Human Genetics : EJHG|June 6, 2013
Accurate prediction of a minimal region around a genetic association signal that contains the causal variantZoltán Bochdanovits, Javier Simón-Sánchez, Marianne Jonker, et al.European Journal of Human Genetics : EJHG|May 10, 2012
PITX2 and FOXC1 spectrum of mutations in ocular syndromesLinda M Reis, Rebecca C Tyler, Bethany A Volkmann Kloss, et al.European Journal of Human Genetics : EJHG|May 3, 2012
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeMohammad Al-Haggar, Agnieszka Madej-Pilarczyk, Lukasz Kozlowski, et al.European Journal of Human Genetics : EJHG|May 24, 2012
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumDeborah Tamura, Sikandar G Khan, Melissa Merideth, et al.European Journal of Human Genetics : EJHG|May 24, 2012
Efficiency of trans-ethnic genome-wide meta-analysis and fine-mappingRick Twee-Hee Ong, Xu Wang, Xuanyao Liu, et al.European Journal of Human Genetics : EJHG|October 3, 2013
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissuesSaeed Bohlega, Huda Al-Ajlan, Amr Al-SaifEuropean Journal of Human Genetics : EJHG|April 26, 2002
Emery-Dreifuss muscular dystrophyAnne Helbling-Leclerc, Gisèle Bonne, Ketty SchwartzPageof 563