A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 293, doi. 10.1111/j.1399-0004.1992.tb03400.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 6
Results: 14
1
2
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians).
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 309, doi. 10.1111/j.1399-0004.1992.tb03404.x
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- Publication type:
- Article
3
Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 322, doi. 10.1111/j.1399-0004.1992.tb03406.x
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- Publication type:
- Article
4
Population variation and genetics of plasma homocyst(e)ine level.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 315, doi. 10.1111/j.1399-0004.1992.tb03405.x
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- Publication type:
- Article
5
Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 281, doi. 10.1111/j.1399-0004.1992.tb03397.x
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- Publication type:
- Article
6
One hundred requests for predictive testing for Huntington's disease.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 326, doi. 10.1111/j.1399-0004.1992.tb03407.x
- By:
- Publication type:
- Article
7
20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 285, doi. 10.1111/j.1399-0004.1992.tb03398.x
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- Publication type:
- Article
8
Hair-nail dysplasia - a new pure autosomal dominant ectodermal dysplasia.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 296, doi. 10.1111/j.1399-0004.1992.tb03401.x
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- Publication type:
- Article
9
Differentiated recurrence risk estimations in the Prader-Willi syndrome.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 303, doi. 10.1111/j.1399-0004.1992.tb03403.x
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- Publication type:
- Article
10
Announcements.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 336, doi. 10.1111/j.1399-0004.1992.tb03410.x
- Publication type:
- Article
11
Intrachromosomal insertion of chromosome 7.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 299, doi. 10.1111/j.1399-0004.1992.tb03402.x
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- Publication type:
- Article
12
Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 331, doi. 10.1111/j.1399-0004.1992.tb03408.x
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- Publication type:
- Article
13
Chromosomal aberrations in Sotos syndrome.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 335, doi. 10.1111/j.1399-0004.1992.tb03409.x
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- Publication type:
- Article
14
Identical twins with an autosomal recessive form of spondylocostal dysostosis.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 290, doi. 10.1111/j.1399-0004.1992.tb03399.x
- By:
- Publication type:
- Article