Works matching IS 00099163 AND DT 2000 AND VI 58 AND IP 1
Results: 18
Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 50, doi. 10.1034/j.1399-0004.2000.580108.x
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- Article
Improvements in adenoviral vector technology: overcoming barriers for gene therapy.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 1, doi. 10.1034/j.1399-0004.2000.580101.x
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Altering the pathway to human gene therapy.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 12, doi. 10.1034/j.1399-0004.2000.580102.x
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Predictive testing for familial adenomatous polyposis in a rural South Indian community.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 57, doi. 10.1034/j.1399-0004.2000.580109.x
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- Article
Neuronal migration defects of the cerebral cortex: a destination debacle.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 16, doi. 10.1034/j.1399-0004.2000.580103.x
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Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 31, doi. 10.1034/j.1399-0004.2000.580106.x
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United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 41, doi. 10.1034/j.1399-0004.2000.580107.x
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Novel deletional mutation of the MEN1 gene in a kindred with multiple endocrine neoplasia type 1.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 61, doi. 10.1034/j.1399-0004.2000.580110.x
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Genetic landmarks through philately – Thomas Hunt Morgan (1866–1945).
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- Clinical Genetics, 2000, v. 58, n. 1, p. 25
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Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 28, doi. 10.1034/j.1399-0004.2000.580105.x
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- Article
Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 64, doi. 10.1034/j.1399-0004.2000.580111.x
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Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 69, doi. 10.1034/j.1399-0004.2000.580112.x
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Genetic variants of NRAMP1 and active tuberculosis in Japanese populations.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 74, doi. 10.1034/j.1399-0004.2000.580113.x
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- Article
Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 77, doi. 10.1034/j.1399-0004.2000.580114.x
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Increased urolithiasis in patients with alkaptonuria in childhood.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 79, doi. 10.1034/j.1399-0004.2000.580115.x
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Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 81, doi. 10.1034/j.1399-0004.2000.580116.x
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Polydactyly in 22q11 syndrome: should it be taken into account?
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- Clinical Genetics, 2000, v. 58, n. 1, p. 84, doi. 10.1034/j.1399-0004.2000.580117.x
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- Article
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 86, doi. 10.1034/j.1399-0004.2000.580118.x
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- Article