Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 3
Results: 15
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
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- Human Genetics, 2001, v. 109, n. 3, p. 356, doi. 10.1007/s004390100582
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Extent of linkage disequilibrium between the androgen receptor gene CAG and GGC repeats in human populations: implications for prostate cancer risk.
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- Human Genetics, 2001, v. 109, n. 3, p. 253, doi. 10.1007/s004390100576
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Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
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- Human Genetics, 2001, v. 109, n. 3, p. 311, doi. 10.1007/s004390100559
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Association between nasal allergy and a coding variant of the FcεRIβ gene Glu237Gly in a Japanese population.
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- Human Genetics, 2001, v. 109, n. 3, p. 262, doi. 10.1007/s004390100561
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Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.
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- Human Genetics, 2001, v. 109, n. 3, p. 245, doi. 10.1007/s004390100580
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Genomic structures and population histories of linguistically distinct tribal groups of India.
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- Human Genetics, 2001, v. 109, n. 3, p. 339, doi. 10.1007/s004390100577
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Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
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- Human Genetics, 2001, v. 109, n. 3, p. 286, doi. 10.1007/s004390100585
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Linkage of body mass index to chromosome 20 in Utah pedigrees.
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- Human Genetics, 2001, v. 109, n. 3, p. 279, doi. 10.1007/s004390100581
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DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
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- Human Genetics, 2001, v. 109, n. 3, p. 271, doi. 10.1007/s004390100572
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Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders.
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- Human Genetics, 2001, v. 109, n. 3, p. 319, doi. 10.1007/s004390100591
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Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test.
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- Human Genetics, 2001, v. 109, n. 3, p. 351, doi. 10.1007/s004390100574
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Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
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- Human Genetics, 2001, v. 109, n. 3, p. 326, doi. 10.1007/s004390100583
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Polymorphism in the alpha<sub>1</sub>-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations.
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- Human Genetics, 2001, v. 109, n. 3, p. 303, doi. 10.1007/s004390100575
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Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation.
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- Human Genetics, 2001, v. 109, n. 3, p. 295, doi. 10.1007/s004390100578
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Compound heterozygosity and nonsense mutations in the α<sub>1</sub>-subunit of the inhibitory glycine receptor in hyperekplexia.
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- Human Genetics, 2001, v. 109, n. 3, p. 267, doi. 10.1007/s004390100569
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