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European Journal of Human Genetics : EJHG|July 22, 2010
Confirmation of association between multiple sclerosis and CYP27B1Emilie Sundqvist, Maria Bäärnhielm, Lars Alfredsson, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyJanine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Hypothetical and factual willingness to participate in biobank researchLinus Johnsson, Gert Helgesson, Thorunn Rafnar, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength geneAn Windelinckx, Gunther De Mars, Wim Huygens, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthSally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
The effect of genome-wide association scan quality control on imputation outcome for common variantsLorraine Southam, Kalliope Panoutsopoulou, N William Rayner, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniquesValeria Romanelli, Heloisa N M Meneses, Luis Fernández, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
ALK2 mutation in a patient with Down's syndrome and a congenital heart defectIrene C Joziasse, Kelly A Smith, Sonja Chocron, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneNigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, et al.
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