Synpolydactyly: clinical and molecular advances.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 113, doi. 10.1111/j.1399-0004.2007.00935.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2008 AND VI 73 AND IP 2
Results: 15
1
2
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker–Warburg syndrome.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 139, doi. 10.1111/j.1399-0004.2007.00936.x
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- Publication type:
- Article
3
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation.
- Published in:
- 2008
- By:
- Publication type:
- Letter
4
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 160, doi. 10.1111/j.1399-0004.2007.00938.x
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- Publication type:
- Article
5
Dyskeratosis congenita: a genetic disorder of many faces.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 103, doi. 10.1111/j.1399-0004.2007.00923.x
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- Publication type:
- Article
6
High frequency of T130I mutation of HNF4A gene in Mexican patients with early-onset type 2 diabetes.
- Published in:
- 2008
- By:
- Publication type:
- Letter
7
Pediatric restrictive cardiomyopathy associated with a mutation in β-myosin heavy chain.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 165, doi. 10.1111/j.1399-0004.2007.00939.x
- By:
- Publication type:
- Article
8
Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 179, doi. 10.1111/j.1399-0004.2007.00940.x
- By:
- Publication type:
- Article
9
Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 132, doi. 10.1111/j.1399-0004.2007.00943.x
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- Publication type:
- Article
10
Perinatal lethal Gaucher’s disease without prenatal complications.
- Published in:
- 2008
- By:
- Publication type:
- Letter
11
Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of ‘intermediate risk’.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 152, doi. 10.1111/j.1399-0004.2007.00948.x
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- Publication type:
- Article
12
Predictors of psychological distress among individuals with a strong family history of malignant melanoma.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 121, doi. 10.1111/j.1399-0004.2007.00949.x
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- Publication type:
- Article
13
Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 146, doi. 10.1111/j.1399-0004.2007.00945.x
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- Publication type:
- Article
14
Novel mutations of the ferroportin gene ( SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 2, p. 171, doi. 10.1111/j.1399-0004.2007.00950.x
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- Publication type:
- Article
15
Corrigendum.
- Published in:
- 2008
- Publication type:
- Correction Notice