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European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
One thing leads to another: the cascade of obligations when researchers report genetic research results to study participantsFiona Alice Miller, Robin Zoe Hayeems, Li Li, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Syndactyly: phenotypes, genetics and current classificationSajid Malik
European Journal of Human Genetics : EJHG|February 2, 2012
Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire studyRoeland Huijgen, Sietske J M Homsma, Barbara A Hutten, et al.
European Journal of Human Genetics : EJHG|February 2, 2012
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicismDavid A Koolen, Juliette Dupont, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|January 26, 2012
Legislation on direct-to-consumer genetic testing in seven European countriesPascal Borry, Rachel E van Hellemondt, Dominique Sprumont, et al.
European Journal of Human Genetics : EJHG|January 26, 2012
Homozygous SMN2 deletion is a protective factor in the Swedish ALS populationPhilippe Corcia, Caroline Ingre, Helene Blasco, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotypeNasim Vasli, Vincent Laugel, Johann Böhm, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyFadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, et al.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.
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