The clinical significance of fragile sites on human chromosomes.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 157, doi. 10.1034/j.1399-0004.2000.580301.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2000 AND VI 58 AND IP 3
Results: 15
1
2
The road less traveled: functional recovery from neurodegeneration.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 162, doi. 10.1034/j.1399-0004.2000.580302.1.x
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- Publication type:
- Article
3
Pseudoxanthoma elasticum arises from mutations in an ABC transporter family member, ABCC6.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 164, doi. 10.1034/j.1399-0004.2000.580302.2.x
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- Publication type:
- Article
4
What we have learned from the DNA sequences of human chromosomes 21 and 22.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 166, doi. 10.1034/j.1399-0004.2000.580302.3.x
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- Publication type:
- Article
5
How men view genetic testing for prostate cancer risk: findings from focus groups.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 169, doi. 10.1034/j.1399-0004.2000.580303.x
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- Publication type:
- Article
6
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 177, doi. 10.1034/j.1399-0004.2000.580304.x
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- Publication type:
- Article
7
Polymorphisms of human SP-A,SP-B, andSP-D genes: association ofSP-B Thr131Ile with ARDS.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 181, doi. 10.1034/j.1399-0004.2000.580305.x
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- Publication type:
- Article
8
Parental and meiotic origin of triploidy in the embryonic and fetal periods.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 192, doi. 10.1034/j.1399-0004.2000.580306.x
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- Publication type:
- Article
9
Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 201, doi. 10.1034/j.1399-0004.2000.580307.x
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- Publication type:
- Article
10
Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 209, doi. 10.1034/j.1399-0004.2000.580308.x
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- Publication type:
- Article
11
Familial Prader-Willi syndrome: case report and a literature review.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 216, doi. 10.1034/j.1399-0004.2000.580309.x
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- Publication type:
- Article
12
A novel mutation (296 del G) of the SOX9 gene in a patient with campomelic syndrome and sex reversal.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 224, doi. 10.1034/j.1399-0004.2000.580310.x
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- Publication type:
- Article
13
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 228, doi. 10.1034/j.1399-0004.2000.580311.x
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- Publication type:
- Article
14
Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 234, doi. 10.1034/j.1399-0004.2000.580312.x
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- Publication type:
- Article
15
Angiotensin II type 1 receptor gene polymorphism is associated with the severity but not prevalence of coronary artery disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 237, doi. 10.1034/j.1399-0004.2000.580313.x
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- Publication type:
- Article