Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 5
Results: 30
Tectonic gene mutations in patients with Joubert syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 616, doi. 10.1038/ejhg.2014.160
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The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 700, doi. 10.1038/ejhg.2014.142
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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 633, doi. 10.1038/ejhg.2014.109
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Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 596, doi. 10.1038/ejhg.2014.145
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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 621, doi. 10.1038/ejhg.2014.156
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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 628, doi. 10.1038/ejhg.2014.141
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Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 693, doi. 10.1038/ejhg.2014.140
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Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 588, doi. 10.1038/ejhg.2014.161
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- Article
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 708, doi. 10.1038/ejhg.2014.167
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Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 654, doi. 10.1038/ejhg.2014.139
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Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 563, doi. 10.1038/ejhg.2014.151
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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 663, doi. 10.1038/ejhg.2014.153
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The phenotype of congenital insensitivity to pain due to the Na<sub>V</sub>1.9 variant p.L811P.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 561, doi. 10.1038/ejhg.2014.166
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Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 688, doi. 10.1038/ejhg.2014.155
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Reply to 'The 'extremely ancient' chromosome that isn't' by Elhaik et al.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 564, doi. 10.1038/ejhg.2014.148
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A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 575, doi. 10.1038/ejhg.2014.147
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Genetics and Genomics in Medicine.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 719, doi. 10.1038/ejhg.2015.18
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Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 711, doi. 10.1038/ejhg.2014.187
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Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 672, doi. 10.1038/ejhg.2014.105
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Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 678, doi. 10.1038/ejhg.2014.158
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Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 646, doi. 10.1038/ejhg.2014.138
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Reply to Mendez et al: the 'extremely ancient' chromosome that still isn't.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 567, doi. 10.1038/ejhg.2014.227
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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 602, doi. 10.1038/ejhg.2014.150
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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 610, doi. 10.1038/ejhg.2014.162
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Identification of previously unrecognized FAP in children with Gardner fibroma.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 715, doi. 10.1038/ejhg.2014.144
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Scientists' perspectives on consent in the context of biobanking research.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 569, doi. 10.1038/ejhg.2014.143
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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 720, doi. 10.1038/ejhg.2014.278
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Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 704, doi. 10.1038/ejhg.2014.163
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A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 639, doi. 10.1038/ejhg.2014.154
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A clinical and genetic analysis of multiple primary cancer referrals to genetics services.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 581, doi. 10.1038/ejhg.2014.157
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