Works matching IS 00099163 AND DT 2001 AND VI 59 AND IP 4
Results: 16
A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 290, doi. 10.1034/j.1399-0004.2001.590414.x
- By:
- Publication type:
- Article
Identification of the intron 14 splicing defect of the cholesteryl ester transfer protein gene in Hong Kong Chinese.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 287, doi. 10.1034/j.1399-0004.2001.590413.x
- By:
- Publication type:
- Article
Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 248, doi. 10.1034/j.1399-0004.2001.590406.x
- By:
- Publication type:
- Article
Monsters, myths and syndromes depicted on stamps.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 244
- By:
- Publication type:
- Article
Genetic evidence to exclude the androgen receptor co-factor, ARA70 (NCOA4) as a candidate gene for the causation of undermasculinised genitalia.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 284, doi. 10.1034/j.1399-0004.2001.590412.x
- By:
- Publication type:
- Article
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 269, doi. 10.1034/j.1399-0004.2001.590409.x
- By:
- Publication type:
- Article
Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 263, doi. 10.1034/j.1399-0004.2001.590408.x
- By:
- Publication type:
- Article
Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 257, doi. 10.1034/j.1399-0004.2001.590407.x
- By:
- Publication type:
- Article
Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 279, doi. 10.1034/j.1399-0004.2001.590411.x
- By:
- Publication type:
- Article
Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 274, doi. 10.1034/j.1399-0004.2001.590410.x
- By:
- Publication type:
- Article
The ethics of benefit sharing.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 240, doi. 10.1034/j.1399-0004.2001.590404.x
- By:
- Publication type:
- Article
Human genetic research, DNA banking and consent: a question of 'form'?
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 221, doi. 10.1034/j.1399-0004.2001.590403.x
- By:
- Publication type:
- Article
Mice and men waltz together towards an understanding of hereditary deafness.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 219, doi. 10.1034/j.1399-0004.2001.590402.3.x
- By:
- Publication type:
- Article
Treating a mouse model for Sly disease with a novel form of gene therapy.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 217, doi. 10.1034/j.1399-0004.2001.590402.2.x
- By:
- Publication type:
- Article
Towards a vaccine for Alzheimer disease.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 216, doi. 10.1034/j.1399-0004.2001.590402.x
- By:
- Publication type:
- Article
Sex determination: lessons from families and embryos.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 4, p. 207, doi. 10.1034/j.1399-0004.2001.590401.x
- By:
- Publication type:
- Article