Results: 19
Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 293, doi. 10.1111/j.1399-0004.2012.01902.x
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- Publication type:
- Article
Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 269, doi. 10.1111/j.1399-0004.2012.01895.x
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- Article
The fragile X-associated tremor ataxia syndrome ( FXTAS) in Indonesia.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 263, doi. 10.1111/j.1399-0004.2012.01899.x
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- Article
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 212, doi. 10.1111/cge.12050
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- Publication type:
- Article
In relation to the article 'Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases' by Bögerhausen et al.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 295, doi. 10.1111/cge.12098
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- Publication type:
- Article
Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 274, doi. 10.1111/j.1399-0004.2012.01891.x
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- Publication type:
- Article
Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 232, doi. 10.1111/j.1399-0004.2012.01906.x
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- Publication type:
- Article
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 291, doi. 10.1111/j.1399-0004.2012.01894.x
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- Publication type:
- Article
Recurrent and founder mutations in the PMS2 gene.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 238, doi. 10.1111/j.1399-0004.2012.01898.x
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- Publication type:
- Article
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 288, doi. 10.1111/j.1399-0004.2012.01901.x
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- Publication type:
- Article
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 251, doi. 10.1111/j.1399-0004.2012.01905.x
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- Publication type:
- Article
Recommendations for the predictive genetic test in Huntington's disease.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 221, doi. 10.1111/j.1399-0004.2012.01900.x
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- Publication type:
- Article
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 244, doi. 10.1111/j.1399-0004.2012.01904.x
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- Publication type:
- Article
Modification of risk for cancer as a coincidental finding in DNA array investigation.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 284, doi. 10.1111/j.1399-0004.2012.01881.x
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- Publication type:
- Article
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 257, doi. 10.1111/j.1399-0004.2012.01896.x
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- Publication type:
- Article
Unmasking Kabuki syndrome.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 201, doi. 10.1111/cge.12051
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- Publication type:
- Article
Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 215, doi. 10.1111/cge.12091
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- Publication type:
- Article
Response to Diaz.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 296, doi. 10.1111/cge.12099
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- Publication type:
- Article
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 279, doi. 10.1111/j.1399-0004.2012.01903.x
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- Article