Works matching IS 00099163 AND DT 1992 AND VI 42 AND IP 4
Results: 13
Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 201, doi. 10.1111/j.1399-0004.1992.tb03238.x
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Aminoacidopathies among institutionalised mentally retarded in Kuwait.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 212, doi. 10.1111/j.1399-0004.1992.tb03241.x
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Nucleotide sequence and PCR-amplification of a polymorphic Mbol site in human DNA marker D4S95 linked to the Huntington disease locus.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 210, doi. 10.1111/j.1399-0004.1992.tb03240.x
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DNA polymorphisms of the apolipoprotein B gene in Chinese coronary artery disease patients.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 164, doi. 10.1111/j.1399-0004.1992.tb03232.x
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DNA probe technology: implications for service planning in Britain.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 186, doi. 10.1111/j.1399-0004.1992.tb03235.x
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Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 196, doi. 10.1111/j.1399-0004.1992.tb03236.x
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Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 178, doi. 10.1111/j.1399-0004.1992.tb03234.x
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Ring chromosome 22 and neurofibromatosis.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 171, doi. 10.1111/j.1399-0004.1992.tb03233.x
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Prenatal prediction of cystic fibrosis in a mother homozygous for the ΔF508 mutation.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 214, doi. 10.1111/j.1399-0004.1992.tb03243.x
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Autosomal inheritance of 'senile' retinitis pigmentosa. A report of a family with consanguinity.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 199, doi. 10.1111/j.1399-0004.1992.tb03237.x
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Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG).
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- Clinical Genetics, 1992, v. 42, n. 4, p. 213, doi. 10.1111/j.1399-0004.1992.tb03242.x
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The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 161, doi. 10.1111/j.1399-0004.1992.tb03231.x
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- Article
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.
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- Clinical Genetics, 1992, v. 42, n. 4, p. 206, doi. 10.1111/j.1399-0004.1992.tb03239.x
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- Article