Multi-organellar disorders of pigmentation: tied up in traffic.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 309, doi. 10.1034/j.1399-0004.1999.550503.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1999 AND VI 55 AND IP 5
Results: 17
1
2
Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 289, doi. 10.1034/j.1399-0004.1999.550501.x
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- Publication type:
- Article
3
HotSpots.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 305, doi. 10.1034/j.1399-0004.1999.550502.x
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- Publication type:
- Article
4
Founder BRCA1 andBRCA2 mutations in French Canadian ovarian cancer cases unselected for family history.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 318, doi. 10.1034/j.1399-0004.1999.550504.x
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- Publication type:
- Article
5
Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 325, doi. 10.1034/j.1399-0004.1999.550505.x
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- Publication type:
- Article
6
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 340, doi. 10.1034/j.1399-0004.1999.550507.x
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- Publication type:
- Article
7
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 332, doi. 10.1034/j.1399-0004.1999.550506.x
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- Publication type:
- Article
8
Tissue-specific methylation differences in a fragile X premutation carrier.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 346, doi. 10.1034/j.1399-0004.1999.550508.x
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- Publication type:
- Article
9
Allele distribution at the FMR1 locus in the general Chinese population.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 353, doi. 10.1034/j.1399-0004.1999.550509.x
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- Publication type:
- Article
10
FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 357, doi. 10.1034/j.1399-0004.1999.550510.x
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- Publication type:
- Article
11
Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 363, doi. 10.1034/j.1399-0004.1999.550511.x
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- Publication type:
- Article
12
Pure trisomy 10p involving an isochromosome 10p.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 367, doi. 10.1034/j.1399-0004.1999.550512.x
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- Publication type:
- Article
13
Partial trisomy 17p detected by spectral karyotyping.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 372, doi. 10.1034/j.1399-0004.1999.550513.x
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- Publication type:
- Article
14
High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 377, doi. 10.1034/j.1399-0004.1999.550514.x
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- Publication type:
- Article
15
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 382, doi. 10.1034/j.1399-0004.1999.550515.x
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- Publication type:
- Article
16
Ebstein's anomaly associated with trisomy 9p.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 384, doi. 10.1034/j.1399-0004.1999.550516.x
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- Publication type:
- Article
17
Infantile sialic acid storage disease: report of the first case in South America.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 387, doi. 10.1034/j.1399-0004.1999.550517.x
- Publication type:
- Article