X-Linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 260, doi. 10.1111/j.1399-0004.1981.tb01031.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1981 AND VI 20 AND IP 4
Results: 14
1
2
Growth hormone and distal trisomy 17qter.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 322, doi. 10.1111/j.1399-0004.1981.tb01041.x
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- Publication type:
- Article
3
Parental α 1-antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 304, doi. 10.1111/j.1399-0004.1981.tb01037.x
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- Publication type:
- Article
4
Triphalangeal thumbs-ectrodactyly in a sporadic case.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 310, doi. 10.1111/j.1399-0004.1981.tb01038.x
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- Publication type:
- Article
5
The significance of different types of information in calculating the probability that a female relative of a Duchenne muscular dystrophy patient is a carrier.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 281, doi. 10.1111/j.1399-0004.1981.tb01034.x
- By:
- Publication type:
- Article
6
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 296, doi. 10.1111/j.1399-0004.1981.tb01036.x
- By:
- Publication type:
- Article
7
The femoral hypoplasia - unusual facies syndrome: A genetic entity?
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 267, doi. 10.1111/j.1399-0004.1981.tb01032.x
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- Publication type:
- Article
8
A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 289, doi. 10.1111/j.1399-0004.1981.tb01035.x
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- Publication type:
- Article
9
Intracellular retention of lysosomal enzymes in cystic fibrosis.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 315, doi. 10.1111/j.1399-0004.1981.tb01039.x
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- Publication type:
- Article
10
Letters to the Editors.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 320, doi. 10.1111/j.1399-0004.1981.tb01040.x
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- Publication type:
- Article
11
Ocular manifestations in a family with probably X-linked cataracts.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 243, doi. 10.1111/j.1399-0004.1981.tb01028.x
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- Publication type:
- Article
12
Heterogeneity and pleiotropism in the Moebius syndrome.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 254, doi. 10.1111/j.1399-0004.1981.tb01030.x
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- Publication type:
- Article
13
Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 276, doi. 10.1111/j.1399-0004.1981.tb01033.x
- By:
- Publication type:
- Article
14
Diagnosis of Refsum's disease using [1-.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 247, doi. 10.1111/j.1399-0004.1981.tb01029.x
- By:
- Publication type:
- Article