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European Journal of Human Genetics : EJHG|April 24, 2014
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndromeFrançois Cartault, Patrick Munier, Marie-Line Jacquemont, et al.
European Journal of Human Genetics : EJHG|March 20, 2014
Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screeningRachèl V van Schendel, Johanna H Kleinveld, Wybo J Dondorp, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Dynamic consent: a patient interface for twenty-first century research networksJane Kaye, Edgar A Whitley, David Lund, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32Jasmin Beygo, Miriam Elbracht, Karel de Groot, et al.
European Journal of Human Genetics : EJHG|November 22, 2012
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomasBertrand Isidor, Franck Bourdeaut, Delfine Lafon, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
AniridiaMelanie Hingorani, Isabel Hanson, Veronica van Heyningen
European Journal of Human Genetics : EJHG|April 27, 2012
Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selectionIgnazio Stefano Piras, Antonella De Montis, Carla Maria Calò, et al.
European Journal of Human Genetics : EJHG|April 27, 2012
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2Sini Penttilä, Manu Jokela, Peter Hackman, et al.
European Journal of Human Genetics : EJHG|September 25, 2014
A clinical and genetic analysis of multiple primary cancer referrals to genetics servicesJames Whitworth, Jon Hoffman, Cyril Chapman, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structureTing Wang, Tong Zhou, Laleh Saadat, et al.
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