Mild clinical phenotype associated with R1158X/S549R(T→G) CFTR genotype.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 147, doi. 10.1034/j.1399-0004.2000.580210.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2000 AND VI 58 AND IP 2
Results: 12
1
2
Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 142, doi. 10.1034/j.1399-0004.2000.580209.x
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- Publication type:
- Article
3
Genetic homogeneity of the Camurati–Engelmann disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 150, doi. 10.1034/j.1399-0004.2000.580211.x
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- Publication type:
- Article
4
Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13).
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 153, doi. 10.1034/j.1399-0004.2000.580212.x
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- Publication type:
- Article
5
Hereditary colorectal cancer: risk assessment and management.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 89, doi. 10.1034/j.1399-0004.2000.580201.x
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- Publication type:
- Article
6
Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 98, doi. 10.1034/j.1399-0004.2000.580202.x
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- Publication type:
- Article
7
Trends in the frequencies of consanguineous marriages in the Israeli Arab community.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 106, doi. 10.1034/j.1399-0004.2000.580203.x
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- Publication type:
- Article
8
Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 111, doi. 10.1034/j.1399-0004.2000.580204.x
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- Publication type:
- Article
9
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 116, doi. 10.1034/j.1399-0004.2000.580205.x
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- Publication type:
- Article
10
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 123, doi. 10.1034/j.1399-0004.2000.580206.x
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- Publication type:
- Article
11
Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2→p15.1: phenotypic consequences and possible mechanisms.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 129, doi. 10.1034/j.1399-0004.2000.580207.x
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- Publication type:
- Article
12
Intrachromosomal triplications: molecular cytogenetic and clinical studies.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 134, doi. 10.1034/j.1399-0004.2000.580208.x
- By:
- Publication type:
- Article