Found: 11
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Sialidase (α-N-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 369, doi. 10.1111/j.1399-0004.1978.tb01194.x
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- Publication type:
- Article
Caudal regression anomalad (sacral agenesis) in siblings.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 353, doi. 10.1111/j.1399-0004.1978.tb01192.x
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- Publication type:
- Article
Pathologic diagnosis of Duchenne muscular dystrophy in an aborted fetus.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 335, doi. 10.1111/j.1399-0004.1978.tb01189.x
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- Publication type:
- Article
Familial aplasia or hypoplasia of the patella.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 350, doi. 10.1111/j.1399-0004.1978.tb01191.x
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- Publication type:
- Article
Cystic fibrosis: Cell culture classes in a Danish population.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 327, doi. 10.1111/j.1399-0004.1978.tb01188.x
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- Publication type:
- Article
Histocompatibility typing and the counseling of families with ankylosing spondylitis.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 380, doi. 10.1111/j.1399-0004.1978.tb01195.x
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- Publication type:
- Article
Letter to the Editors.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 384, doi. 10.1111/j.1399-0004.1978.tb01196.x
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- Publication type:
- Article
Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 339, doi. 10.1111/j.1399-0004.1978.tb01190.x
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- Publication type:
- Article
Announcements.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 385, doi. 10.1111/j.1399-0004.1978.tb01197.x
- Publication type:
- Article
Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 359, doi. 10.1111/j.1399-0004.1978.tb01193.x
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- Publication type:
- Article
Genetic control of human plasma creatine phosphokinase activity.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 4, p. 321, doi. 10.1111/j.1399-0004.1978.tb01187.x
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- Publication type:
- Article