Detection of the Pvull RFLP in intron 15 of the LDL receptor gene by long-distance PCR.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 277, doi. 10.1111/j.1399-0004.1996.tb03788.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1996 AND VI 49 AND IP 5
Results: 11
1
2
Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 261, doi. 10.1111/j.1399-0004.1996.tb03784.x
- By:
- Publication type:
- Article
3
Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3).
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 271, doi. 10.1111/j.1399-0004.1996.tb03786.x
- By:
- Publication type:
- Article
4
Marker chromosome identification by micro-FISH.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 242, doi. 10.1111/j.1399-0004.1996.tb03781.x
- By:
- Publication type:
- Article
5
Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 223, doi. 10.1111/j.1399-0004.1996.tb03778.x
- By:
- Publication type:
- Article
6
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 274, doi. 10.1111/j.1399-0004.1996.tb03787.x
- By:
- Publication type:
- Article
7
Biliary malformation with renal tubular insufficiency in two male infants: third family report.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 267, doi. 10.1111/j.1399-0004.1996.tb03785.x
- By:
- Publication type:
- Article
8
Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 249, doi. 10.1111/j.1399-0004.1996.tb03782.x
- By:
- Publication type:
- Article
9
Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 255, doi. 10.1111/j.1399-0004.1996.tb03783.x
- By:
- Publication type:
- Article
10
Cohen syndrome: the clinical symptoms and stigmata at a young age.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 237, doi. 10.1111/j.1399-0004.1996.tb03780.x
- By:
- Publication type:
- Article
11
The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 232, doi. 10.1111/j.1399-0004.1996.tb03779.x
- By:
- Publication type:
- Article