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European Journal of Human Genetics : EJHG|March 3, 2011
Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?Anne-Louise Leutenegger, Mourad Sahbatou, Steven Gazal, et al.
European Journal of Human Genetics : EJHG|August 4, 2011
Discrepancies in reporting the CAG repeat lengths for Huntington's diseaseOliver W Quarrell, Olivia Handley, Kirsty O'Donovan, et al.
European Journal of Human Genetics : EJHG|August 4, 2011
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traitsGhazal Zaboli, Adam Ameur, Wilmar Igl, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Maternally inherited mitochondrial DNA disease in consanguineous familiesCharlotte L Alston, Langping He, Andrew A Morris, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regionsKaja K Selmer, Gregor D Gilfillan, Petter Strømme, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndromeMary J Gray, Chong Ae Kim, Debora Romeo Bertola, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasiaVerónica Barca-Tierno, Miriam Aza-Carmona, Eva Barroso, et al.
European Journal of Human Genetics : EJHG|March 31, 2011
Reduced transcript expression of genes affected by inherited and de novo CNVs in autismAlex S Nord, Wendy Roeb, Diane E Dickel, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 allelesJosé Miguel Laffita-Mesa, Luis C Velázquez-Pérez, Nieves Santos Falcón, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionDiana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, et al.
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