Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 12
Results: 29
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1634, doi. 10.1038/ejhg.2015.41
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1744, doi. 10.1038/ejhg.2015.161
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A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1702, doi. 10.1038/ejhg.2015.66
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SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1627, doi. 10.1038/ejhg.2015.46
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Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1689, doi. 10.1038/ejhg.2015.42
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Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1, doi. 10.1038/ejhg.2014.146
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Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1593, doi. 10.1038/ejhg.2014.289
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A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1673, doi. 10.1038/ejhg.2015.52
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Partial USH2A deletions contribute to Usher syndrome in Denmark.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1646, doi. 10.1038/ejhg.2015.54
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No evidence for increased mortality in SDHD variant carriers compared with the general population.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1713, doi. 10.1038/ejhg.2015.36
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Pathogenic mitochondrial mt-tRNA<sup>Ala</sup> variants are uniquely associated with isolated myopathy.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1735, doi. 10.1038/ejhg.2015.73
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Partial USH2A deletions contribute to Usher syndrome in Denmark.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.131
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Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1, doi. 10.1038/ejhg.2015.67
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Association of mutations in FLNA with craniosynostosis.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1684, doi. 10.1038/ejhg.2015.31
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Stakeholders' perspectives on biobank-based genomic research: systematic review of the literature.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1607, doi. 10.1038/ejhg.2015.27
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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38
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Towards a European consensus for reporting incidental findings during clinical NGS testing.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1601, doi. 10.1038/ejhg.2015.111
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A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1729, doi. 10.1038/ejhg.2014.241
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- Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
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Deciphering associations for lung cancer risk through imputation and analysis of 12 316 cases and 16 831 controls.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1723, doi. 10.1038/ejhg.2015.48
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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1665, doi. 10.1038/ejhg.2015.47
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Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.208
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- Article
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1657, doi. 10.1038/ejhg.2015.32
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
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Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1717, doi. 10.1038/ejhg.2015.34
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Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1679, doi. 10.1038/ejhg.2015.49
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Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1694, doi. 10.1038/ejhg.2015.37
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Collapsed haplotype pattern method for linkage analysis of next-generation sequence data.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1739, doi. 10.1038/ejhg.2015.64
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