Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 7
Results: 9
Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 342, doi. 10.1007/s100380200047
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Homozygous deletion on the chromosomal region 5q12.3 in human lines of small-cell lung cancers.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 348, doi. 10.1007/s100380200048
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Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 355, doi. 10.1007/s100380200049
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Strategies for genome-wide association studies: optimization of study designs by the stepwise focusing method.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 360, doi. 10.1007/s100380200050
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Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 366, doi. 10.1007/s100380200051
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Identification of single-nucleotide polymorphisms in the human LPIN1 gene.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 370, doi. 10.1007/s100380200052
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Molecular cloning and characterization of a novel human cAMP response element-binding (CREB) gene (CREB4).
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 373, doi. 10.1007/s100380200053
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- Article
Web-based detection of genotype errors in pedigree data.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 377, doi. 10.1007/s100380200054
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Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 333, doi. 10.1007/s100380200046
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- Article