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European Journal of Human Genetics : EJHG|June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genesAimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.European Journal of Human Genetics : EJHG|May 7, 2009
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPAMichela Barbaro, Antonio Balsamo, Britt Marie Anderlid, et al.European Journal of Human Genetics : EJHG|June 1, 2010
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's diseaseFanny Mochel, Sandrine Duteil, Cécilia Marelli, et al.European Journal of Human Genetics : EJHG|June 1, 2010
The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levelsTea Berulava, Bernhard HorsthemkeEuropean Journal of Human Genetics : EJHG|June 1, 2010
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screeningBelinda J McClaren, Sylvia A Metcalfe, Maryanne Aitken, et al.European Journal of Human Genetics : EJHG|September 8, 2006
The scale and nature of Viking settlement in Ireland from Y-chromosome admixture analysisBrian McEvoy, Claire Brady, Laoise T Moore, et al.European Journal of Human Genetics : EJHG|September 8, 2006
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2Katarina Lehmann, Petra Seemann, Jan Boergermann, et al.European Journal of Human Genetics : EJHG|September 14, 2006
Sotos syndromeKatrina Tatton-Brown, Nazneen RahmanEuropean Journal of Human Genetics : EJHG|November 30, 2006
Using HapMap data: a cautionary noteNidhan K Biswas, Badal Dey, Partha P MajumderPageof 564