Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 1
Results: 21
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
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- Human Genetics, 2000, v. 106, n. 1, p. 50, doi. 10.1007/s004390051009
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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
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- Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007
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Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.
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- Human Genetics, 2000, v. 106, n. 1, p. 127, doi. 10.1007/s004390051020
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An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype.
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- Human Genetics, 2000, v. 106, n. 1, p. 80, doi. 10.1007/s004390051013
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Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
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- Human Genetics, 2000, v. 106, n. 1, p. 73, doi. 10.1007/s004390051012
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Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.
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- Human Genetics, 2000, v. 106, n. 1, p. 125, doi. 10.1007/s004390051019
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Congenital cataracts: gene mapping.
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- Human Genetics, 2000, v. 106, n. 1, p. 1, doi. 10.1007/s004390051002
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Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats.
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- Human Genetics, 2000, v. 106, n. 1, p. 45, doi. 10.1007/s004390051008
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Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.
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- Human Genetics, 2000, v. 106, n. 1, p. 36, doi. 10.1007/s004390051006
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Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
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- Human Genetics, 2000, v. 106, n. 1, p. 19, doi. 10.1007/s004390051004
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Genetic distances and microsatellite diversification in humans.
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- Human Genetics, 2000, v. 106, n. 1, p. 133, doi. 10.1007/s004399900204
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Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
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- Human Genetics, 2000, v. 106, n. 1, p. 86, doi. 10.1007/s004399900201
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Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.
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- Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227
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Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses.
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- Human Genetics, 2000, v. 106, n. 1, p. 14, doi. 10.1007/s004399900186
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Application of different genetic distance methods to microsatellite data.
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- Human Genetics, 2000, v. 106, n. 1, p. 130, doi. 10.1007/s004399900203
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Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.
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- Human Genetics, 2000, v. 106, n. 1, p. 101, doi. 10.1007/s004399900195
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Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.
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- Human Genetics, 2000, v. 106, n. 1, p. 93, doi. 10.1007/s004390051015
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Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
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- Human Genetics, 2000, v. 106, n. 1, p. 66, doi. 10.1007/s004390051011
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Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
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- Human Genetics, 2000, v. 106, n. 1, p. 116, doi. 10.1007/s004390051018
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Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
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- Human Genetics, 2000, v. 106, n. 1, p. 108, doi. 10.1007/s004390051017
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Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes.
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- Human Genetics, 2000, v. 106, n. 1, p. 29, doi. 10.1007/s004390051005
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