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European Journal of Human Genetics : EJHG|July 31, 2014
Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendantsInês Nogueiro, João Teixeira, António Amorim, et al.
European Journal of Human Genetics : EJHG|July 31, 2014
Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescentsSarah Voisin, Markus S Almén, George Moschonis, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1Fernando Morales, Melissa Vásquez, Patricia Cuenca, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Functional correction by antisense therapy of a splicing mutation in the GALT geneAna I Coelho, Sílvia Lourenço, Matilde Trabuco, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysmRuth Leutermann, Sara Sheikhzadeh, Lars Brockstädt, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
European Journal of Human Genetics : EJHG|December 5, 2013
Further delineation of the SATB2 phenotypeDennis Döcker, Max Schubach, Moritz Menzel, et al.
European Journal of Human Genetics : EJHG|December 5, 2013
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotypeLucie Coppin, Claudine Grutzmacher, Michel Crépin, et al.
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