Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 8
Results: 22
On two Jewish clades in mitochondrial DNA.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 993, doi. 10.1038/ejhg.2014.231
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Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.257
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A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 996, doi. 10.1038/ejhg.2015.33
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
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Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1100, doi. 10.1038/ejhg.2014.244
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Identification of schizophrenia-associated loci by combining DNA methylation and gene expression data from whole blood.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1106, doi. 10.1038/ejhg.2014.245
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Duplicated copy of CHRNA7 increases risk and worsens prognosis of COPD and lung cancer.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1019, doi. 10.1038/ejhg.2014.229
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Clinical utility gene card for: Zellweger syndrome spectrum.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.250
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Reply to letter from Felice L. Bedford and Doron Yacobi.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 994, doi. 10.1038/ejhg.2014.232
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An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1004, doi. 10.1038/ejhg.2014.238
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Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1112, doi. 10.1038/ejhg.2015.129
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Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1033, doi. 10.1038/ejhg.2015.45
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Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1042, doi. 10.1038/ejhg.2015.81
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Novel genomic signals of recent selection in an Ethiopian population.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1085, doi. 10.1038/ejhg.2014.233
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A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1112, doi. 10.1038/ejhg.2015.82
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- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1025, doi. 10.1038/ejhg.2014.237
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Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1072, doi. 10.1038/ejhg.2014.240
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Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1062, doi. 10.1038/ejhg.2014.234
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
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Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1080, doi. 10.1038/ejhg.2014.242
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Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1093, doi. 10.1038/ejhg.2014.218
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