Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 169, doi. 10.1034/j.1399-0004.2002.620211.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2002 AND VI 62 AND IP 2
Results: 15
1
2
Epigenetic contributors to the discordance of monozygotic twins.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 97, doi. 10.1034/j.1399-0004.2002.620201.x
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- Publication type:
- Article
3
HotSpots.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 104, doi. 10.1034/j.1399-0004.2002.620202.x
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- Publication type:
- Article
4
Living with Marfan syndrome III. Quality of life and reproductive planning.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 110, doi. 10.1034/j.1399-0004.2002.620203.x
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- Publication type:
- Article
5
Family issues in a psychoeducation group for women with a BRCA mutation.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 121, doi. 10.1034/j.1399-0004.2002.620204.x
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- Publication type:
- Article
6
Interdependent effect of angiotensin-converting enzyme and platelet-activating factor acetylhydrolase gene polymorphisms on the progression of immunoglobulin A nephropathy.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 128, doi. 10.1034/j.1399-0004.2002.620205.x
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- Publication type:
- Article
7
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 135, doi. 10.1034/j.1399-0004.2002.620206.x
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- Publication type:
- Article
8
Anticipation in hereditary breast cancer.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 147, doi. 10.1034/j.1399-0004.2002.620207.x
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- Publication type:
- Article
9
Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 151, doi. 10.1034/j.1399-0004.2002.620208.x
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- Publication type:
- Article
10
Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 157, doi. 10.1034/j.1399-0004.2002.620209.x
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- Publication type:
- Article
11
Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 165, doi. 10.1034/j.1399-0004.2002.620210.x
- By:
- Publication type:
- Article
12
α1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G→A transition in position +1 of intron IC affecting normal mRNA splicing.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 175, doi. 10.1034/j.1399-0004.2002.620212.x
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- Publication type:
- Article
13
Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 181, doi. 10.1034/j.1399-0004.2002.620213.x
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- Publication type:
- Article
14
How many phenotypes in the DTDST family chondrodysplasias?
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 189, doi. 10.1034/j.1399-0004.2002.620214.x
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- Publication type:
- Article
15
CALL FOR ABSTRACTS.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 2, p. 191, doi. 10.1034/j.1399-0004.2002.620215.x
- Publication type:
- Article