Results: 12
Keeping an eye on splicing; A FOX speaks; An aneuploidy surprise.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 169, doi. 10.1034/j.1399-0004.2002.610301.x
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- Publication type:
- Article
Effects of apolipoprotein A-I genetic variations on plasma apolipoprotein, serum lipoprotein and glucose levels.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 176, doi. 10.1034/j.1399-0004.2002.610302.x
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- Publication type:
- Article
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 185, doi. 10.1034/j.1399-0004.2002.610303.x
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- Publication type:
- Article
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 192, doi. 10.1034/j.1399-0004.2002.610304.x
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- Publication type:
- Article
A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 198, doi. 10.1034/j.1399-0004.2002.610305.x
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- Publication type:
- Article
De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 202, doi. 10.1034/j.1399-0004.2002.610306.x
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- Publication type:
- Article
Complete screening of the CFTR gene in Argentine cystic fibrosis patients.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 207, doi. 10.1034/j.1399-0004.2002.610307.x
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- Publication type:
- Article
Familial adenomatous polyposis in two Black South African families.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 214, doi. 10.1034/j.1399-0004.2002.610308.x
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- Publication type:
- Article
Mutation in the FGFR2 gene in a Taiwanese patient with Beare–Stevenson cutis gyrata syndrome.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 218, doi. 10.1034/j.1399-0004.2002.610309.x
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- Publication type:
- Article
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 222, doi. 10.1034/j.1399-0004.2002.610310.x
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- Publication type:
- Article
A 4q21-q22 deletion in a girl with severe growth retardation.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 226, doi. 10.1034/j.1399-0004.2002.610311.x
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- Publication type:
- Article
Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 229, doi. 10.1034/j.1399-0004.2002.610312.x
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- Publication type:
- Article