Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 5
Results: 14
Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 5, p. 473, doi. 10.1111/cge.12202
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- Article
Pathogenic or not? Assessing the clinical relevance of copy number variants.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 415, doi. 10.1111/cge.12242
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- Article
Funding considerations for the disclosure of genetic incidental findings in biobank research.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 397, doi. 10.1111/cge.12190
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- Article
cDNA analysis of the BRCA1 unclassified variant c.5194- 12G> A.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 505, doi. 10.1111/cge.12052
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- Article
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 482, doi. 10.1111/cge.12016
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- Article
Pathogenic variants in non-protein-coding sequences.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 422, doi. 10.1111/cge.12272
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- Article
Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 441, doi. 10.1111/cge.12151
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- Article
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 489, doi. 10.1111/cge.12126
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- Article
A systematic approach to assessing the clinical significance of genetic variants.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 453, doi. 10.1111/cge.12257
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- Article
The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?
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- Clinical Genetics, 2013, v. 84, n. 5, p. 407, doi. 10.1111/cge.12256
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- Article
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 429, doi. 10.1111/cge.12061
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- Article
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 496, doi. 10.1111/cge.12018
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- Article
Association of HLA locus variant in Parkinson's disease.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 501, doi. 10.1111/cge.12024
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- Article
Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 464, doi. 10.1111/cge.12097
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- Article