Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 3
Results: 28
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 374, doi. 10.1038/ejhg.2013.159
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Meta-analysis of SNPs involved in variance heterogeneity using Levene's test for equal variances.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 427, doi. 10.1038/ejhg.2013.166
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A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 423, doi. 10.1038/ejhg.2013.146
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Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132
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A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 402, doi. 10.1038/ejhg.2013.161
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Dysmorphology at a distance: results of a web-based diagnostic service.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 327, doi. 10.1038/ejhg.2013.137
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- Article
Expansive marker analysis replicating the association of glaucoma susceptibility with human chromosome loci 1q43 and 10p12.31.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 409, doi. 10.1038/ejhg.2013.149
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Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 307, doi. 10.1038/ejhg.2013.134
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Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 391, doi. 10.1038/ejhg.2013.158
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Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 396, doi. 10.1038/ejhg.2013.143
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The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 322, doi. 10.1038/ejhg.2013.151
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Atrial fibrillation: the role of common and rare genetic variants.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 297, doi. 10.1038/ejhg.2013.139
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Sustained effects of online genetics education: a randomized controlled trial on oncogenetics.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 310, doi. 10.1038/ejhg.2013.163
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THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 358, doi. 10.1038/ejhg.2013.136
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- Article
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 333, doi. 10.1038/ejhg.2013.138
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Clinical utility gene card for: Alagille Syndrome (ALGS).
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.140
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Correction for multiple testing in a gene region.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 414, doi. 10.1038/ejhg.2013.144
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A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 419, doi. 10.1038/ejhg.2013.157
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The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 338, doi. 10.1038/ejhg.2013.147
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Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 350, doi. 10.1038/ejhg.2013.160
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An efficient method for long-term room temperature storage of RNA.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 379, doi. 10.1038/ejhg.2013.145
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Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148
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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 344, doi. 10.1038/ejhg.2013.162
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Clinical utility gene card for: Vici Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.142
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Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 386, doi. 10.1038/ejhg.2013.155
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Data sharing in large research consortia: experiences and recommendations from ENGAGE.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 317, doi. 10.1038/ejhg.2013.131
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- Article
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 363, doi. 10.1038/ejhg.2013.135
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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 369, doi. 10.1038/ejhg.2013.141
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