Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 2
Results: 13
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.
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- Human Genetics, 2000, v. 106, n. 2, p. 179, doi. 10.1007/s004390051026
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SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers.
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- Human Genetics, 2000, v. 106, n. 2, p. 227, doi. 10.1007/s004390051032
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Molecular analysis of the genotype-phenotype relationship in factor X deficiency.
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- Human Genetics, 2000, v. 106, n. 2, p. 249, doi. 10.1007/s004390051035
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Genetics of molybdenum cofactor deficiency.
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- Human Genetics, 2000, v. 106, n. 2, p. 157, doi. 10.1007/s004390051023
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Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization.
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- Human Genetics, 2000, v. 106, n. 2, p. 210, doi. 10.1007/s004390051030
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Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization.
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- Human Genetics, 2000, v. 106, n. 2, p. 188, doi. 10.1007/s004390051027
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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
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- Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033
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A simple and accurate method for determination of microsatellite total allele content differences between DNA pools.
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- Human Genetics, 2000, v. 106, n. 2, p. 218, doi. 10.1007/s004390051031
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Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
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- Human Genetics, 2000, v. 106, n. 2, p. 194, doi. 10.1007/s004390051028
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
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- Human Genetics, 2000, v. 106, n. 2, p. 172, doi. 10.1007/s004390051025
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Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA<sub>3</sub>).
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- Human Genetics, 2000, v. 106, n. 2, p. 206, doi. 10.1007/s004390051029
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Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
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- Human Genetics, 2000, v. 106, n. 2, p. 244, doi. 10.1007/s004390051034
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Gene organization and rearrangements at the human Rhesus blood group locus revealed by fiber-FISH analysis.
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- Human Genetics, 2000, v. 106, n. 2, p. 164, doi. 10.1007/s004390051024
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- Article