A de novo tandem duplication 15(q21→qter) mosaic.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 1, doi. 10.1111/j.1399-0004.1982.tb01401.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1982 AND VI 22 AND IP 1
Results: 10
1
2
Elucidation of an unbalanced chromosome translocation by gene dosage studies.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 30, doi. 10.1111/j.1399-0004.1982.tb01407.x
- By:
- Publication type:
- Article
3
A new craniosynostosis/mental retardation syndrome diagnosed by fetoscopy.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 12, doi. 10.1111/j.1399-0004.1982.tb01403.x
- By:
- Publication type:
- Article
4
A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 16, doi. 10.1111/j.1399-0004.1982.tb01404.x
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- Publication type:
- Article
5
A syndrome of short stature, joint laxity and developmental delay.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 40, doi. 10.1111/j.1399-0004.1982.tb01409.x
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- Publication type:
- Article
6
Catechol-O-methyltransferase activity in erythrocytes in Down's syndrome: family studies.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 22, doi. 10.1111/j.1399-0004.1982.tb01405.x
- By:
- Publication type:
- Article
7
A case of retinoblastoma, associated with histiocytosis-X and mosaicism of a deleted D-group chromosome (13q14→q31).
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 37, doi. 10.1111/j.1399-0004.1982.tb01408.x
- By:
- Publication type:
- Article
8
Ivemark syndrome in siblings.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 7, doi. 10.1111/j.1399-0004.1982.tb01402.x
- By:
- Publication type:
- Article
9
Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 25, doi. 10.1111/j.1399-0004.1982.tb01406.x
- By:
- Publication type:
- Article
10
Childbirth in a woman with chronic Niemann-Pick (type B) disease.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 47, doi. 10.1111/j.1399-0004.1982.tb01410.x
- By:
- Publication type:
- Article