Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 5
Results: 15
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
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- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
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Identification of an intronic regulatory element in the human protein C (PROC) gene.
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- Human Genetics, 2000, v. 107, n. 5, p. 458, doi. 10.1007/s004390000391
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Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis.
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- Human Genetics, 2000, v. 107, n. 5, p. 452, doi. 10.1007/s004390000400
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Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia.
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- Human Genetics, 2000, v. 107, n. 5, p. 504, doi. 10.1007/s004390000403
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High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC).
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- Human Genetics, 2000, v. 107, n. 5, p. 483, doi. 10.1007/s004390000396
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Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene.
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- Human Genetics, 2000, v. 107, n. 5, p. 519, doi. 10.1007/s004390000405
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Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools.
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- Human Genetics, 2000, v. 107, n. 5, p. 488, doi. 10.1007/s004390000397
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Association analysis of GABA<sub>A</sub> β2 and γ2 gene polymorphisms with event-related prefrontal activity in man.
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- Human Genetics, 2000, v. 107, n. 5, p. 513, doi. 10.1007/s004390000401
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Real-time quantitative polymerase chain reaction: A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies
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- Human Genetics, 2000, v. 107, n. 5, p. 494, doi. 10.1007/s004390000399
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Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.
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- Human Genetics, 2000, v. 107, n. 5, p. 440, doi. 10.1007/s004390000389
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Interchromosomal insertions: Identification of five cases and a review.
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- Human Genetics, 2000, v. 107, n. 5, p. 415, doi. 10.1007/s004390000398
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Human variant glucose-6-phosphate transporter is active in microsomal transport.
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- Human Genetics, 2000, v. 107, n. 5, p. 526, doi. 10.1007/s004390000404
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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
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- Human Genetics, 2000, v. 107, n. 5, p. 499, doi. 10.1007/s004390000402
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Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E (ApoE) gene polymorphism and age on the relational order within a field of lipid metabolism traits.
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- Human Genetics, 2000, v. 107, n. 5, p. 466, doi. 10.1007/s004390000394
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Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
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- Human Genetics, 2000, v. 107, n. 5, p. 476, doi. 10.1007/s004390000395
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- Article