Works matching IS 00099163 AND DT 2012 AND VI 81 AND IP 1
Results: 17
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 56, doi. 10.1111/j.1399-0004.2010.01615.x
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Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 24, doi. 10.1111/j.1399-0004.2011.01793.x
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Management of inherited thrombophilia: guide for genetics professionals.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 7, doi. 10.1111/j.1399-0004.2011.01746.x
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The impact of risk information exposure on women's beliefs about direct-to-consumer genetic testing for BRCA mutations.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 29, doi. 10.1111/j.1399-0004.2011.01797.x
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Adoption and the communication of genetic risk: experiences in Huntington disease.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 64, doi. 10.1111/j.1399-0004.2010.01614.x
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Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 38, doi. 10.1111/j.1399-0004.2011.01676.x
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Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 18, doi. 10.1111/j.1399-0004.2011.01778.x
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CCMG statement on direct-to-consumer genetic testing.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 1, doi. 10.1111/j.1399-0004.2011.01789.x
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Clinical findings in patients with GLI2 mutations - phenotypic variability.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 70, doi. 10.1111/j.1399-0004.2010.01606.x
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Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 82, doi. 10.1111/j.1399-0004.2010.01598.x
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Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 93, doi. 10.1111/j.1399-0004.2011.01700.x
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Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 96, doi. 10.1111/j.1399-0004.2011.01704.x
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Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 99, doi. 10.1111/j.1399-0004.2011.01708.x
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Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 76, doi. 10.1111/j.1399-0004.2010.01605.x
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DTC genetic testing: pendulum swings and policy paradoxes.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 4, doi. 10.1111/j.1399-0004.2011.01799.x
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Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 47, doi. 10.1111/j.1399-0004.2011.01638.x
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First HPSE2 missense mutation in urofacial syndrome.
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- Clinical Genetics, 2012, v. 81, n. 1, p. 88, doi. 10.1111/j.1399-0004.2011.01649.x
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- Article