The spectrum of ocular features in the Williams-Beuren syndrome.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 28, doi. 10.1111/j.1399-0004.1996.tb04320.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1996 AND VI 49 AND IP 1
Results: 13
1
2
The phenotype of a 45, X male with a Y/18 translocation.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 37, doi. 10.1111/j.1399-0004.1996.tb04322.x
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- Publication type:
- Article
3
Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome?
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 46, doi. 10.1111/j.1399-0004.1996.tb04324.x
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- Publication type:
- Article
4
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 49, doi. 10.1111/j.1399-0004.1996.tb04325.x
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- Publication type:
- Article
5
Peripheral blood cell counts in infants with Down's syndrome.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 15, doi. 10.1111/j.1399-0004.1996.tb04318.x
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- Publication type:
- Article
6
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 10, doi. 10.1111/j.1399-0004.1996.tb04317.x
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- Publication type:
- Article
7
An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 32, doi. 10.1111/j.1399-0004.1996.tb04321.x
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- Publication type:
- Article
8
G542X mutation in Mexican cystic fibrosis patients.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 54, doi. 10.1111/j.1399-0004.1996.tb04326.x
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- Publication type:
- Article
9
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 2, doi. 10.1111/j.1399-0004.1996.tb04315.x
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- Publication type:
- Article
10
Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 6, doi. 10.1111/j.1399-0004.1996.tb04316.x
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- Publication type:
- Article
11
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 20, doi. 10.1111/j.1399-0004.1996.tb04319.x
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- Publication type:
- Article
12
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 42, doi. 10.1111/j.1399-0004.1996.tb04323.x
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- Publication type:
- Article
13
A new year, a new start.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 1, doi. 10.1111/j.1399-0004.1996.tb04314.x
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- Publication type:
- Article