Found: 18
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Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 339, doi. 10.1111/j.1399-0004.2007.00833.x
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- Publication type:
- Article
The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.
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- Clinical Genetics, 2007, v. 72, n. 4, p. 271, doi. 10.1111/j.1399-0004.2007.00847.x
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- Publication type:
- Article
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor ( FGFR)-2 gene.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 305, doi. 10.1111/j.1399-0004.2007.00861.x
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- Article
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
- Published in:
- 2007
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- Publication type:
- Letter
Non-random maternal X-chromosome inactivation associated with PHACES.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 345, doi. 10.1111/j.1399-0004.2007.00851.x
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- Publication type:
- Article
Mosaic paternally derived inv dup(15) may partially rescue the Prader–Willi syndrome phenotype with uniparental disomy.
- Published in:
- 2007
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- Publication type:
- Letter
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 351, doi. 10.1111/j.1399-0004.2007.00848.x
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- Publication type:
- Article
Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 369, doi. 10.1111/j.1399-0004.2007.00870.x
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- Publication type:
- Article
Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 311, doi. 10.1111/j.1399-0004.2007.00866.x
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- Publication type:
- Article
The genetics of mitral valve prolapse.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 288, doi. 10.1111/j.1399-0004.2007.00865.x
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- Publication type:
- Article
Gene dosage influences the age at onset of SCA2 in a family from southern Italy.
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- 2007
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- Publication type:
- Letter
Movement and mood disorder in two brothers with Gaucher disease.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 357, doi. 10.1111/j.1399-0004.2007.00863.x
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- Publication type:
- Article
Germinal mosaicism in Simpson-Golabi-Behmel syndrome.
- Published in:
- 2007
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- Publication type:
- Letter
Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert’s syndrome in Taiwanese adults.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 321, doi. 10.1111/j.1399-0004.2007.00873.x
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- Publication type:
- Article
Insights into the genetics of severe congenital neutropenia.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 308, doi. 10.1111/j.1399-0004.2007.00872.x
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- Publication type:
- Article
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
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- Clinical Genetics, 2007, v. 72, n. 4, p. 329, doi. 10.1111/j.1399-0004.2007.00876.x
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- Publication type:
- Article
Pure subtelomeric microduplications as a cause of mental retardation.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 362, doi. 10.1111/j.1399-0004.2007.00874.x
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- Publication type:
- Article
Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 296, doi. 10.1111/j.1399-0004.2007.00888.x
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- Publication type:
- Article