Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 157, doi. 10.1111/j.1399-0004.1989.tb02922.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1989 AND VI 35 AND IP 2
Results: 12
1
2
Chromosomal abnormalities in amniotic fluid cell cultures: a comparison of apparent pseudomosaicism in Chang and RPMI-1640 media.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 139, doi. 10.1111/j.1399-0004.1989.tb02919.x
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- Publication type:
- Article
3
Birth prevalence rates of skeletal dysplasias.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 88, doi. 10.1111/j.1399-0004.1989.tb02912.x
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- Publication type:
- Article
4
Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 152, doi. 10.1111/j.1399-0004.1989.tb02921.x
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- Publication type:
- Article
5
X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 116, doi. 10.1111/j.1399-0004.1989.tb02915.x
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- Publication type:
- Article
6
X chromosome instability associated with familial Turner syndrome.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 111, doi. 10.1111/j.1399-0004.1989.tb02914.x
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- Publication type:
- Article
7
Genetic linkage between Huntington's disease and D4S10(G8) in Scottish families.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 133, doi. 10.1111/j.1399-0004.1989.tb02918.x
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- Publication type:
- Article
8
Bloom's syndrome. XIV. The disorder in Japan.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 93, doi. 10.1111/j.1399-0004.1989.tb02913.x
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- Publication type:
- Article
9
Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 121, doi. 10.1111/j.1399-0004.1989.tb02916.x
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- Publication type:
- Article
10
Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 125, doi. 10.1111/j.1399-0004.1989.tb02917.x
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- Publication type:
- Article
11
Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 81, doi. 10.1111/j.1399-0004.1989.tb02911.x
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- Publication type:
- Article
12
Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 2, p. 146, doi. 10.1111/j.1399-0004.1989.tb02920.x
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- Publication type:
- Article