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European Journal of Human Genetics : EJHG|July 25, 2022
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndromeShannon Carter, Bridget J Fellows, Kate Gibson, et al.
European Journal of Human Genetics : EJHG|July 27, 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledgeLore Lannoo, Khaila van Straaten, Jeroen Breckpot, et al.
European Journal of Human Genetics : EJHG|October 7, 2010
Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) methodBernard Bonaïti, Valérie Bonadona, Hervé Perdry, et al.
European Journal of Human Genetics : EJHG|September 9, 2010
In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populationsBegoña Martínez-Cruz, Renaud Vitalis, Laure Ségurel, et al.
European Journal of Human Genetics : EJHG|September 9, 2010
Mutation rate estimates for 110 Y-chromosome STRs combining population and father-son pair dataConcetta Burgarella, Miguel Navascués
European Journal of Human Genetics : EJHG|September 9, 2010
Genomic analysis of partial 21q monosomies with variable phenotypesElisha D O Roberson, Elizabeth Squibb Wohler, Julie E Hoover-Fong, et al.
European Journal of Human Genetics : EJHG|August 19, 2010
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGHAnne Chun-Hui Tsai, Cherilyn J Dossett, Carol S Walton, et al.
European Journal of Human Genetics : EJHG|August 19, 2010
Cervix smear abnormalities: linking pathology data in female twins, their mothers and sistersJacqueline M Vink, Folkert J van Kemenade, Chris J L M Meijer, et al.
European Journal of Human Genetics : EJHG|June 24, 2010
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1Alice Marques-Pinheiro, Marie Marduel, Jean-Pierre Rabès, et al.
European Journal of Human Genetics : EJHG|June 24, 2010
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiencyChristopher W Carr, Daniel Moreno-De-Luca, Colette Parker, et al.
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