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European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
European Journal of Human Genetics : EJHG|September 20, 2012
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseMonique Losekoot, Martine J van Belzen, Sara Seneca, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Genetic perspectives on the origin of clicks in Bantu languages from southwestern ZambiaChiara Barbieri, Anne Butthof, Koen Bostoen, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema R Lalani, Chad Shaw, Xueqing Wang, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective studyEyal Reinstein, Mitchel Pariani, Serguei Bannykh, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutationsBarbara Lanthaler, Elisabeth Steichen-Gersdorf, Barbara Kollerits, et al.
European Journal of Human Genetics : EJHG|July 12, 2012
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseasePaschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, et al.
European Journal of Human Genetics : EJHG|July 12, 2012
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertilityAmirreza Haghighi, Alireza Haghighi, Aria Setoodeh, et al.
European Journal of Human Genetics : EJHG|July 12, 2012
Using identity by descent estimation with dense genotype data to detect positive selectionLide Han, Mark Abney
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, et al.
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