PMX2B , a new candidate gene for Hirschsprung's disease.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 3, p. 204, doi. 10.1034/j.1399-0004.2003.00105.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2003 AND VI 64 AND IP 3
Results: 16
1
2
Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 220, doi. 10.1034/j.1399-0004.2003.t01-1-00110.x
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- Article
3
Association of autism severity with a monoamine oxidase A functional polymorphism.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 190, doi. 10.1034/j.1399-0004.2003.00115.x
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- Article
4
Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 255, doi. 10.1034/j.1399-0004.2003.00120.x
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- Article
5
Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 243, doi. 10.1034/j.1399-0004.2003.00123.x
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- Publication type:
- Article
6
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 258, doi. 10.1034/j.1399-0004.2003.00125.x
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- Publication type:
- Article
7
Genetic analysis of males from intracytoplasmic sperm injection couples.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 3, p. 198, doi. 10.1034/j.1399-0004.2003.00128.x
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- Publication type:
- Article
8
Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 261, doi. 10.1034/j.1399-0004.2003.00129.x
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- Article
9
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 235, doi. 10.1034/j.1399-0004.2003.00132.x
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- Article
10
Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 179, doi. 10.1034/j.1399-0004.2003.00133.x
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- Publication type:
- Article
11
No justification of routine screening for 22q11 deletions in patients with overt cleft palate.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 216, doi. 10.1034/j.1399-0004.2003.00134.x
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- Article
12
No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver–Russell syndrome cases.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 252, doi. 10.1034/j.1399-0004.2003.00135.x
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- Publication type:
- Article
13
Cholesterol ester transfer protein, apolipoprotein E and lipoprotein lipase genotypes in patients with coronary artery disease in the Turkish population.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 228, doi. 10.1034/j.1399-0004.2003.00137.x
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- Publication type:
- Article
14
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.
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- Clinical Genetics, 2003, v. 64, n. 3, p. 210, doi. 10.1034/j.1399-0004.2003.00138.x
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- Publication type:
- Article
15
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 3, p. 263, doi. 10.1034/j.1399-0004.2003.00139.x
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- Publication type:
- Article
16
Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 3, p. 266, doi. 10.1034/j.1399-0004.2003.00140.x
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- Publication type:
- Article