Results: 14
Transcription factors in dysmorphology.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 137, doi. 10.1034/j.1399-0004.1999.550301.x
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- Publication type:
- Article
SMN: understanding a complex protein complex and its role in disease.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 145, doi. 10.1034/j.1399-0004.1999.550302-1.x
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- Publication type:
- Article
Ionizing radiation-induced signaling pathways in ataxia telangiectasia.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 147, doi. 10.1034/j.1399-0004.1999.550302-2.x
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- Publication type:
- Article
Muddy waters: looking beyond the disease-causing mutation, DNA mutations at second sites influence phenotype.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 144, doi. 10.1034/j.1399-0004.1999.550302.x
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- Publication type:
- Article
Beginning of a molecular era in hearing and deafness.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 149, doi. 10.1034/j.1399-0004.1999.550303.x
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- Publication type:
- Article
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 173, doi. 10.1034/j.1399-0004.1999.550305.x
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- Publication type:
- Article
Interpupillary distance in a normal black population.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 182, doi. 10.1034/j.1399-0004.1999.550306.x
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- Publication type:
- Article
Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down’s syndrome.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 192, doi. 10.1034/j.1399-0004.1999.550307.x
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- Publication type:
- Article
Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 198, doi. 10.1034/j.1399-0004.1999.550308.x
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- Publication type:
- Article
Additive effect of three noradrenergic genes (ADRA2A,ADRA2C,DBH) on attention-deficit hyperactivity disorder and learning disabilities in Tourette syndrome subjects.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 160, doi. 10.1034/j.1399-0004.1999.550304.x
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- Publication type:
- Article
Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 212, doi. 10.1034/j.1399-0004.1999.550311.x
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- Publication type:
- Article
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 215, doi. 10.1034/j.1399-0004.1999.550312.x
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- Publication type:
- Article
An extra idic(21)(q22.1) in a child with some features of Down’s syndrome.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 203, doi. 10.1034/j.1399-0004.1999.550309.x
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- Publication type:
- Article
A brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: practical considerations for accurate detection.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 207, doi. 10.1034/j.1399-0004.1999.550310.x
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- Publication type:
- Article