Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 2
Results: 13
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
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- Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453
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Neonatal presentation of adult-onset type II citrullinemia.
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- Human Genetics, 2001, v. 108, n. 2, p. 87, doi. 10.1007/s004390000448
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Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
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- Human Genetics, 2001, v. 108, n. 2, p. 109, doi. 10.1007/s004390000446
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Quantitation of fetal DNA in maternal serum in normal and aneuploid pregnancies.
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- Human Genetics, 2001, v. 108, n. 2, p. 123, doi. 10.1007/s004390100457
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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
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- Human Genetics, 2001, v. 108, n. 2, p. 91, doi. 10.1007/s004390100461
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Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.
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- Human Genetics, 2001, v. 108, n. 2, p. 98, doi. 10.1007/s004390000450
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Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction.
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- Human Genetics, 2001, v. 108, n. 2, p. 134, doi. 10.1007/s004390000449
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Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1).
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- Human Genetics, 2001, v. 108, n. 2, p. 148, doi. 10.1007/s004390000444
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Polymorphism in promoter region of Fcα receptor gene in patients with IgA nephropathy.
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- Human Genetics, 2001, v. 108, n. 2, p. 128, doi. 10.1007/s004390100458
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Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7.
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- Human Genetics, 2001, v. 108, n. 2, p. 116, doi. 10.1007/s004390000455
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Lack of association between α2-macroglobulin polymorphisms and Alzheimer's disease.
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- Human Genetics, 2001, v. 108, n. 2, p. 105, doi. 10.1007/s004390000445
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Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.
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- Human Genetics, 2001, v. 108, n. 2, p. 167, doi. 10.1007/s004390000447
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TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.
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- Human Genetics, 2001, v. 108, n. 2, p. 156, doi. 10.1007/s004390100460
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