Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 6
Results: 23
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 726, doi. 10.1038/ejhg.2013.222
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Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 814, doi. 10.1038/ejhg.2013.227
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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 762, doi. 10.1038/ejhg.2013.241
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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250
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Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
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Underestimation of heritability using a mixed model with a polygenic covariance structure in a genome-wide association study for complex traits.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 851, doi. 10.1038/ejhg.2013.236
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Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 748, doi. 10.1038/ejhg.2013.237
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Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 754, doi. 10.1038/ejhg.2013.253
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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 792, doi. 10.1038/ejhg.2013.248
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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 776, doi. 10.1038/ejhg.2013.243
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Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 768, doi. 10.1038/ejhg.2013.232
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German Ethics Council on genetic diagnostics: trend setting?
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 831, doi. 10.1038/ejhg.2013.239
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Common genetic variants do not associate with CAD in familial hypercholesterolemia.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 809, doi. 10.1038/ejhg.2013.242
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A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 833, doi. 10.1038/ejhg.2013.245
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Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 715, doi. 10.1038/ejhg.2013.247
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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 847, doi. 10.1038/ejhg.2013.231
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Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 822, doi. 10.1038/ejhg.2013.235
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- Article
Allele-specific regulation of DISC1 expression by miR-135b-5p.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 840, doi. 10.1038/ejhg.2013.246
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Site-specific methylation of placental HSD11B2 gene promoter is related to intrauterine growth restriction.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 734, doi. 10.1038/ejhg.2013.226
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HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 837, doi. 10.1038/ejhg.2013.251
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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
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Dysfunctional NF-κB and brain myelin formation.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 724, doi. 10.1038/ejhg.2013.240
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Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 784, doi. 10.1038/ejhg.2013.238
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