Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 5
Results: 13
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive α- N-acetylglucosaminidase-producing allele.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 243, doi. 10.1111/j.1399-0004.1992.tb03674.x
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- Article
Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 225, doi. 10.1111/j.1399-0004.1992.tb03670.x
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- Article
Polymorphisms at the GLUT2 (β-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 229, doi. 10.1111/j.1399-0004.1992.tb03671.x
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- Article
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- Clinical Genetics, 1992, v. 41, n. 5, p. 235, doi. 10.1111/j.1399-0004.1992.tb03672.x
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- Article
Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 239, doi. 10.1111/j.1399-0004.1992.tb03673.x
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- Article
Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 270, doi. 10.1111/j.1399-0004.1992.tb03680.x
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- Article
Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 252, doi. 10.1111/j.1399-0004.1992.tb03676.x
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- Article
An additional patient with the 3C syndrome.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 263, doi. 10.1111/j.1399-0004.1992.tb03678.x
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- Article
Interstitial deletion of 17pl 1.2 with brain abnormalities.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 278, doi. 10.1111/j.1399-0004.1992.tb03682.x
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- Article
Lethal congenital erythroderma: a newly recognised genetic disorder.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 273, doi. 10.1111/j.1399-0004.1992.tb03681.x
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- Article
Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 266, doi. 10.1111/j.1399-0004.1992.tb03679.x
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- Article
Dominantly inherited microcephaly, short stature and normal intelligence.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 248, doi. 10.1111/j.1399-0004.1992.tb03675.x
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- Article
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 259, doi. 10.1111/j.1399-0004.1992.tb03677.x
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- Article