Found: 17
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Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 66, doi. 10.1111/j.1399-0004.2009.01350.x
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- Publication type:
- Article
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 47, doi. 10.1111/j.1399-0004.2009.01353.x
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- Article
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 88, doi. 10.1111/j.1399-0004.2009.01357.x
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- Article
Two missense mutations in SLC26A4 gene: a molecular and functional study.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 74, doi. 10.1111/j.1399-0004.2009.01360.x
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- Article
Safety and cardiovascular behavior during pulmonary function in patients with Marfan syndrome.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 57, doi. 10.1111/j.1399-0004.2010.01367.x
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- Article
Genetics of glucose-6-phosphate dehydrogenase deficiency in Saudi patients.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 98, doi. 10.1111/j.1399-0004.2010.01377.x
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- Article
Testing for CHEK2 in the cancer genetics clinic: ready for prime time?
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- Clinical Genetics, 2010, v. 78, n. 1, p. 1, doi. 10.1111/j.1399-0004.2010.01402.x
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- Article
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 94, doi. 10.1111/j.1399-0004.2010.01412.x
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- Article
Exome sequencing: locating causative genes in rare disorders.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 32, doi. 10.1111/j.1399-0004.2010.01414_1.x
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- Article
Genetic variants associated with cisplatin-induced hearing loss.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 33, doi. 10.1111/j.1399-0004.2010.01414_2.x
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- Article
Down's syndrome patients are less likely to develop cancer.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 35, doi. 10.1111/j.1399-0004.2010.01414_3.x
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- Article
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 81, doi. 10.1111/j.1399-0004.2010.01423.x
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- Article
CHEK2, breast cancer, and the understanding of clinical utility.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 8, doi. 10.1111/j.1399-0004.2010.01444.x
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- Publication type:
- Article
Chromodomain proteins in development: lessons from CHARGE syndrome.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 11, doi. 10.1111/j.1399-0004.2010.01446.x
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- Article
Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.
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- Clinical Genetics, 2010, v. 78, n. 1, p. 38, doi. 10.1111/j.1399-0004.2010.01448.x
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- Publication type:
- Article
Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 1, p. 21, doi. 10.1111/j.1399-0004.2010.01459.x
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- Publication type:
- Article
Erratum.
- Published in:
- 2010
- Publication type:
- Correction Notice