Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 3
Results: 19
Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 274, doi. 10.1111/j.1399-0004.2012.01891.x
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New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 291, doi. 10.1111/j.1399-0004.2012.01894.x
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Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 269, doi. 10.1111/j.1399-0004.2012.01895.x
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Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 212, doi. 10.1111/cge.12050
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The fragile X-associated tremor ataxia syndrome ( FXTAS) in Indonesia.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 263, doi. 10.1111/j.1399-0004.2012.01899.x
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Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 293, doi. 10.1111/j.1399-0004.2012.01902.x
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Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 232, doi. 10.1111/j.1399-0004.2012.01906.x
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In relation to the article 'Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases' by Bögerhausen et al.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 295, doi. 10.1111/cge.12098
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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
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- Clinical Genetics, 2013, v. 83, n. 3, p. 251, doi. 10.1111/j.1399-0004.2012.01905.x
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Recommendations for the predictive genetic test in Huntington's disease.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 221, doi. 10.1111/j.1399-0004.2012.01900.x
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Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 215, doi. 10.1111/cge.12091
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Recurrent and founder mutations in the PMS2 gene.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 238, doi. 10.1111/j.1399-0004.2012.01898.x
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Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 288, doi. 10.1111/j.1399-0004.2012.01901.x
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Response to Diaz.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 296, doi. 10.1111/cge.12099
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Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 244, doi. 10.1111/j.1399-0004.2012.01904.x
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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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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 257, doi. 10.1111/j.1399-0004.2012.01896.x
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Unmasking Kabuki syndrome.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 201, doi. 10.1111/cge.12051
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Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 279, doi. 10.1111/j.1399-0004.2012.01903.x
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