Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 7
Results: 16
Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 742, doi. 10.1038/ejhg.2011.272
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- Article
Legislation on direct-to-consumer genetic testing in seven European countries.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 715, doi. 10.1038/ejhg.2011.278
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- Article
Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 722, doi. 10.1038/ejhg.2012.5
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- Article
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 801, doi. 10.1038/ejhg.2012.3
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- Article
Association between survivin −31G>C promoter polymorphism and cancer risk: a meta-analysis.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 790, doi. 10.1038/ejhg.2011.276
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- Article
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 806, doi. 10.1038/ejhg.2012.9
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- Article
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 769, doi. 10.1038/ejhg.2012.2
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Discovery of variants unmasked by hemizygous deletions.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263
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- Article
A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 783, doi. 10.1038/ejhg.2012.4
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- Article
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 762, doi. 10.1038/ejhg.2011.277
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Article
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 734, doi. 10.1038/ejhg.2012.7
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- Article
Low prevalence of lactase persistence in Neolithic South-West Europe.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 778, doi. 10.1038/ejhg.2011.254
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- Article
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 729, doi. 10.1038/ejhg.2012.1
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- Article
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 796, doi. 10.1038/ejhg.2011.271
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- Article
Low prevalence of lactase persistence in Neolithic South-West Europe.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 810, doi. 10.1038/ejhg.2012.54
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- Article