Announcements.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 56, doi. 10.1111/j.1399-0004.1994.tb03993.x
- Publication type:
- Article
Works matching IS 00099163 AND DT 1994 AND VI 45 AND IP 1
Results: 14
1
2
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10; 17) may indicate candidate gene regions.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 11, doi. 10.1111/j.1399-0004.1994.tb03982.x
- By:
- Publication type:
- Article
3
A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 54, doi. 10.1111/j.1399-0004.1994.tb03992.x
- By:
- Publication type:
- Article
4
Defective G2 repair in Down syndrome: effect of caffeine, adenosine and niacinamide in control and X-ray irradiated lymphocytes.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 25, doi. 10.1111/j.1399-0004.1994.tb03985.x
- By:
- Publication type:
- Article
5
Direct transmission of a tandem duplication in the short arm of chromosome 8.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 36, doi. 10.1111/j.1399-0004.1994.tb03987.x
- By:
- Publication type:
- Article
6
Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 17, doi. 10.1111/j.1399-0004.1994.tb03983.x
- By:
- Publication type:
- Article
7
A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 52, doi. 10.1111/j.1399-0004.1994.tb03991.x
- By:
- Publication type:
- Article
8
A new simple and rapid dual assay for AFP and free β hCG in screening for Down syndrome.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 1, doi. 10.1111/j.1399-0004.1994.tb03980.x
- By:
- Publication type:
- Article
9
A constitutional mutation within the retinoblastoma gene detected by PFGE.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 5, doi. 10.1111/j.1399-0004.1994.tb03981.x
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- Publication type:
- Article
10
Male with type II autosomal recessive cutis laxa.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 40, doi. 10.1111/j.1399-0004.1994.tb03988.x
- By:
- Publication type:
- Article
11
Myoclonic epilepsy and a maternally derived deletion of 15pter→13.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 44, doi. 10.1111/j.1399-0004.1994.tb03989.x
- By:
- Publication type:
- Article
12
Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 48, doi. 10.1111/j.1399-0004.1994.tb03990.x
- By:
- Publication type:
- Article
13
Thyroid cancer in a case with the Alagille syndrome.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 21, doi. 10.1111/j.1399-0004.1994.tb03984.x
- By:
- Publication type:
- Article
14
Occipital horn syndrome: report of a patient and review of the literature.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 32, doi. 10.1111/j.1399-0004.1994.tb03986.x
- By:
- Publication type:
- Article