Mosaic 'tetrasomy' 8p: case report and review of the literature.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 195, doi. 10.1111/j.1399-0004.1995.tb04088.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1995 AND VI 48 AND IP 4
Results: 12
1
2
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 177, doi. 10.1111/j.1399-0004.1995.tb04084.x
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- Publication type:
- Article
3
Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 213, doi. 10.1111/j.1399-0004.1995.tb04091.x
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- Publication type:
- Article
4
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 217, doi. 10.1111/j.1399-0004.1995.tb04092.x
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- Publication type:
- Article
5
Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 183, doi. 10.1111/j.1399-0004.1995.tb04085.x
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- Publication type:
- Article
6
Rett syndrome: potential gene sources - phenotypical variability.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 169, doi. 10.1111/j.1399-0004.1995.tb04082.x
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- Publication type:
- Article
7
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 209, doi. 10.1111/j.1399-0004.1995.tb04090.x
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- Publication type:
- Article
8
Late diagnosis of Down syndrome due to incorrect cytogenetic diagnosis and extreme prematurity.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 192, doi. 10.1111/j.1399-0004.1995.tb04087.x
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- Publication type:
- Article
9
A frequent Hhal polymorphism in intron 9 of the low density lipoprotein receptor gene detected by the denaturing gradient gel electrophoresis technique.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 221, doi. 10.1111/j.1399-0004.1995.tb04093.x
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- Publication type:
- Article
10
Spondylo-camptodactyly syndrome: a distinct autosomal dominant entity?
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 173, doi. 10.1111/j.1399-0004.1995.tb04083.x
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- Publication type:
- Article
11
Characterization of a ring chromosome 21 by FISH-technique.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 188, doi. 10.1111/j.1399-0004.1995.tb04086.x
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- Publication type:
- Article
12
Genetics in democratic societies - the Nordic perspective.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 199, doi. 10.1111/j.1399-0004.1995.tb04089.x
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- Publication type:
- Article