Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 12
Results: 19
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1308, doi. 10.1038/ejhg.2012.90
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- Article
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1240, doi. 10.1038/ejhg.2012.95
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- Article
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1311, doi. 10.1038/ejhg.2012.61
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- Article
Efficiency of trans-ethnic genome-wide meta-analysis and fine-mapping.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1300, doi. 10.1038/ejhg.2012.88
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- Article
A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1290, doi. 10.1038/ejhg.2012.103
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- Article
Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1209, doi. 10.1038/ejhg.2012.131
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- Article
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1315, doi. 10.1038/ejhg.2012.92
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- Article
Copy number variation in patients with cervical artery dissection.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1295, doi. 10.1038/ejhg.2012.82
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- Article
Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1265, doi. 10.1038/ejhg.2012.84
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- Article
Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1248, doi. 10.1038/ejhg.2012.128
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- Article
MLH1 methylation screening is effective in identifying epimutation carriers.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1256, doi. 10.1038/ejhg.2012.136
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- Article
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1224, doi. 10.1038/ejhg.2012.80
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- Article
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1216, doi. 10.1038/ejhg.2012.127
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- Article
Analytical and simulation methods for estimating the potential predictive ability of genetic profiling: a comparison of methods and results.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1270, doi. 10.1038/ejhg.2012.89
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- Article
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
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- Article
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108
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- Article
Quantifying harmful mutations in human populations.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1320, doi. 10.1038/ejhg.2012.68
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- Article
Inferring separate parental admixture components in unknown DNA samples using autosomal SNPs.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1283, doi. 10.1038/ejhg.2012.134
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- Article
Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1275, doi. 10.1038/ejhg.2012.86
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- Article