Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 1
Results: 24
Measuring informed choice in population-based reproductive genetic screening: a systematic review.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 8, doi. 10.1038/ejhg.2014.89
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Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 79, doi. 10.1038/ejhg.2014.54
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Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 116, doi. 10.1038/ejhg.2014.47
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Is the novel SCKL3 at 14q23 the predominant Seckel locus?
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 140, doi. 10.1038/ejhg.2014.258
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 41, doi. 10.1038/ejhg.2014.49
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A new mutation in GFAP widens the spectrum of Alexander disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 1, doi. 10.1038/ejhg.2014.99
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Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 34, doi. 10.1038/ejhg.2014.44
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Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 72, doi. 10.1038/ejhg.2014.68
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Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 61, doi. 10.1038/ejhg.2014.53
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Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 110, doi. 10.1038/ejhg.2014.56
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New insights into genotype-phenotype correlation for GLI3 mutations.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
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The phylogenetic and geographic structure of Y-chromosome haplogroup R1a.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 124, doi. 10.1038/ejhg.2014.50
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Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 49, doi. 10.1038/ejhg.2014.60
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Characterization of the transcriptional machinery bound across the widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 103, doi. 10.1038/ejhg.2014.48
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Brain tumor risk according to germ-line variation in the MLLT10 locus.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 132, doi. 10.1038/ejhg.2014.70
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G is for Genes: The Impact of Genetics on Education and Achievement.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 139, doi. 10.1038/ejhg.2014.117
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Further confirmation of the MED13L haploinsufficiency syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
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Parental expression is overvalued in the interpretation of rare inherited variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 4, doi. 10.1038/ejhg.2014.64
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Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 86, doi. 10.1038/ejhg.2014.52
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Possible technical and biological explanations for the 'parental telomere length inheritance discrepancy' enigma.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 3, doi. 10.1038/ejhg.2014.65
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Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 67, doi. 10.1038/ejhg.2014.58
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Toward a common language for biobanking.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 22, doi. 10.1038/ejhg.2014.45
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A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 29, doi. 10.1038/ejhg.2014.59
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