Works matching IS 00099163 AND DT 1988 AND VI 33 AND IP 5
Results: 13
X-linked recessive aqueductal stenosis without macrocephaly.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 390, doi. 10.1111/j.1399-0004.1988.tb03467.x
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- Article
Isolated 'clinical anophthalmia' in an extensively affected Arab kindred.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 321, doi. 10.1111/j.1399-0004.1988.tb03458.x
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- Article
16q21 is critical for 16q deletion syndrome.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 372, doi. 10.1111/j.1399-0004.1988.tb03464.x
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- Article
Higher resolution banding techniques in the clinical routine.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 325, doi. 10.1111/j.1399-0004.1988.tb03459.x
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- Article
Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 376, doi. 10.1111/j.1399-0004.1988.tb03465.x
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- Article
Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 360, doi. 10.1111/j.1399-0004.1988.tb03463.x
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- Article
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 331, doi. 10.1111/j.1399-0004.1988.tb03460.x
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- Article
Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 386, doi. 10.1111/j.1399-0004.1988.tb03466.x
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- Publication type:
- Article
Erratum.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 400, doi. 10.1111/j.1399-0004.1988.tb03470.x
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- Article
Partial 6p trisomy associated with infantile autism.
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- Clinical Genetics, 1988, v. 33, n. 5, p. 356, doi. 10.1111/j.1399-0004.1988.tb03462.x
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- Article
Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 349, doi. 10.1111/j.1399-0004.1988.tb03461.x
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- Article
Mixed hearing loss in Larsen Syndrome.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 395, doi. 10.1111/j.1399-0004.1988.tb03468.x
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- Article
Announcements.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 5, p. 399, doi. 10.1111/j.1399-0004.1988.tb03469.x
- Publication type:
- Article