Works matching IS 00099163 AND DT 1978 AND VI 14 AND IP 1
Results: 9
Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 16, doi. 10.1111/j.1399-0004.1978.tb02055.x
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- Publication type:
- Article
The cherry red spot-myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 55, doi. 10.1111/j.1399-0004.1978.tb02061.x
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- Publication type:
- Article
Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 1, doi. 10.1111/j.1399-0004.1978.tb02053.x
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- Publication type:
- Article
Biochemical investigations in cultured skin fibroblasts from patients with Duchenne muscular dystrophy.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 50, doi. 10.1111/j.1399-0004.1978.tb02060.x
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- Publication type:
- Article
Charcot-Marie-Tooth disease: Data for genetic counseling relating age to risk.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 43, doi. 10.1111/j.1399-0004.1978.tb02059.x
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- Publication type:
- Article
In vitro studies of the interaction of isolated Lp(a) lipoprotein and other serum lipoproteins with glycosaminoglycans.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 36, doi. 10.1111/j.1399-0004.1978.tb02058.x
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- Publication type:
- Article
Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 8, doi. 10.1111/j.1399-0004.1978.tb02054.x
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- Publication type:
- Article
H - Y antigen in human intersexuality.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 31, doi. 10.1111/j.1399-0004.1978.tb02057.x
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- Publication type:
- Article
The Dyggve - Melchior - Clausen syndrome in adult siblings.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 24, doi. 10.1111/j.1399-0004.1978.tb02056.x
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- Publication type:
- Article