Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 256, doi. 10.1111/j.1399-0004.2009.01203.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 3
Results: 13
1
2
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 296, doi. 10.1111/j.1399-0004.2009.01210.x
- By:
- Publication type:
- Article
3
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 292, doi. 10.1111/j.1399-0004.2009.01189.x
- By:
- Publication type:
- Article
4
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 276, doi. 10.1111/j.1399-0004.2009.01204.x
- By:
- Publication type:
- Article
5
Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 287, doi. 10.1111/j.1399-0004.2009.01201.x
- By:
- Publication type:
- Article
6
Polyalamine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 300, doi. 10.1111/j.1399-0004.2009.01213.x
- By:
- Publication type:
- Article
7
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 263, doi. 10.1111/j.1399-0004.2009.01216.x
- By:
- Publication type:
- Article
8
DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 270, doi. 10.1111/j.1399-0004.2009.01209.x
- By:
- Publication type:
- Article
9
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 242, doi. 10.1111/j.1399-0004.2009.01241.x
- By:
- Publication type:
- Article
10
Genetic gains on the obesity and metabolic disease fronts.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 236, doi. 10.1111/j.1399-0004.2009.01255.x
- By:
- Publication type:
- Article
11
CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 282, doi. 10.1111/j.1399-0004.2009.01258.x
- By:
- Publication type:
- Article
12
Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 225, doi. 10.1111/j.1399-0004.2009.01263.x
- By:
- Publication type:
- Article
13
Kåre Berg (1932–2009).
- Published in:
- 2009
- By:
- Publication type:
- Obituary