Works matching IS 00099163 AND DT 2001 AND VI 59 AND IP 6
Results: 15
The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 375, doi. 10.1034/j.1399-0004.2001.590601.x
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- Article
HotSpots.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 387, doi. 10.1034/j.1399-0004.2001.590602.x
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Treatment of severe hypercholesterolemia in apolipoprotein E-deficient mice by intramuscular injection of plasmid DNA.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 389, doi. 10.1034/j.1399-0004.2001.590602.3.x
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Hammerhead ribozyme as a therapeutic agent for hyperlipidemia: Production of truncated apolipoprotein B and hypolipidemic effects in a dyslipidemia murine model.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 389, doi. 10.1034/j.1399-0004.2001.590602.3.x
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- Article
Prolonged correction of hyperlipidemia in mice with familial hypercholesterolemia using an adeno-associated viral vector expressing very-low-density lipoprotein receptor.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 390, doi. 10.1111/j.1399-0004.2001.590602.4.x
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Long-term reversal of hypercholesterolemia in low-density lipoprotein receptor (LDLR)-deficient mice by adenovirus-mediated LDLR gene transfer combined with CD154 blockade.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 391, doi. 10.1111/j.1399-0004.2001.590602.5.x
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Genetic landmarks through philately: the Human Genome Project and the new millennium.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 393, doi. 10.1034/j.1399-0004.2001.590603.x
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LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 397, doi. 10.1034/j.1399-0004.2001.590604.x
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Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 406, doi. 10.1034/j.1399-0004.2001.590605.x
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Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 418, doi. 10.1034/j.1399-0004.2001.590606.x
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Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 424, doi. 10.1034/j.1399-0004.2001.590607.x
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Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 430, doi. 10.1034/j.1399-0004.2001.590608.x
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Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 438, doi. 10.1034/j.1399-0004.2001.590609.x
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Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype–phenotype correlation.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 444, doi. 10.1034/j.1399-0004.2001.590610.x
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Antley–Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 451, doi. 10.1034/j.1399-0004.2001.590611.x
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- Article