Works matching IS 00099163 AND DT 1974 AND VI 5 AND IP 4
Results: 16
An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 368, doi. 10.1111/j.1399-0004.1974.tb01708.x
- By:
- Publication type:
- Article
The Cerebro-Oculo-Facio-Skeletal syndrome.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 294, doi. 10.1111/j.1399-0004.1974.tb01696.x
- By:
- Publication type:
- Article
The MASA syndrome: A new heritable mental retardation syndrome.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 298, doi. 10.1111/j.1399-0004.1974.tb01697.x
- By:
- Publication type:
- Article
Serum dopamine-β-hydroxylase levels in Down's syndrome.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 312, doi. 10.1111/j.1399-0004.1974.tb01699.x
- By:
- Publication type:
- Article
Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 363, doi. 10.1111/j.1399-0004.1974.tb01707.x
- By:
- Publication type:
- Article
The manifesting carrier in Duchenne muscular dystrophy.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 271, doi. 10.1111/j.1399-0004.1974.tb01694.x
- By:
- Publication type:
- Article
Frequency and segregation of 16qh+.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 316, doi. 10.1111/j.1399-0004.1974.tb01700.x
- By:
- Publication type:
- Article
Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: III, β-glucuronidase, N-acetyl-β-D-glucosaminidase, α-mannosidase and acid phosphatase.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 356, doi. 10.1111/j.1399-0004.1974.tb01706.x
- By:
- Publication type:
- Article
Familial neuromuscular disease with 'myotubes'.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 327, doi. 10.1111/j.1399-0004.1974.tb01702.x
- By:
- Publication type:
- Article
Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 338, doi. 10.1111/j.1399-0004.1974.tb01703.x
- By:
- Publication type:
- Article
The National Foundation - March of Dimes.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 378, doi. 10.1111/j.1399-0004.1974.tb01709.x
- Publication type:
- Article
Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: II. α-galactosidase, β-galactosidase and α-arabinosidase.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 351, doi. 10.1111/j.1399-0004.1974.tb01705.x
- By:
- Publication type:
- Article
Complete failure of eruption of all permanent teeth: An autosomal dominant disorder.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 322, doi. 10.1111/j.1399-0004.1974.tb01701.x
- By:
- Publication type:
- Article
X-linked idiopathic thrombocytopenia.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 344, doi. 10.1111/j.1399-0004.1974.tb01704.x
- By:
- Publication type:
- Article
Autosomal recessive Cerebro-Oculo-Facio-Skeletal (COFS) syndrome.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 285, doi. 10.1111/j.1399-0004.1974.tb01695.x
- By:
- Publication type:
- Article
Osteogenesis irnperfecta congenita.
- Published in:
- Clinical Genetics, 1974, v. 5, n. 4, p. 307, doi. 10.1111/j.1399-0004.1974.tb01698.x
- By:
- Publication type:
- Article