Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 2
Results: 14
Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 70, doi. 10.1111/j.1399-0004.1992.tb03635.x
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- Article
A lethal syndrome resembling branchio-oculo facial syndrome.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 74, doi. 10.1111/j.1399-0004.1992.tb03636.x
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- Article
A girl with 71,XXXXY karyotype.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 96, doi. 10.1111/j.1399-0004.1992.tb03641.x
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- Article
The thymic findings in stillborns with neural tube defects.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 62, doi. 10.1111/j.1399-0004.1992.tb03633.x
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- Article
No effect of a Taql polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 90, doi. 10.1111/j.1399-0004.1992.tb03640.x
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- Article
Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 65, doi. 10.1111/j.1399-0004.1992.tb03634.x
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- Article
Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 87, doi. 10.1111/j.1399-0004.1992.tb03639.x
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- Article
A boy with Poland anomaly and facio-auriculo-vertebral dysplasia.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 105, doi. 10.1111/j.1399-0004.1992.tb03643.x
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- Article
The interstitial deletion of bands q33-35 of long arm of chromosome 7: a review with a new case report.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 82, doi. 10.1111/j.1399-0004.1992.tb03638.x
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- Article
Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 57, doi. 10.1111/j.1399-0004.1992.tb03632.x
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A new form of X-linked, high-frequency, sensorineural deafness.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 79, doi. 10.1111/j.1399-0004.1992.tb03637.x
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- Article
Quality control in routine chromosome analysis: prediction of total number of bands for the individual case analyzed.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 100, doi. 10.1111/j.1399-0004.1992.tb03642.x
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Announcements.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 2, p. 111, doi. 10.1111/j.1399-0004.1992.tb03645.x
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- Article
Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X-linked inheritance.
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- Clinical Genetics, 1992, v. 41, n. 2, p. 108, doi. 10.1111/j.1399-0004.1992.tb03644.x
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- Article