Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 7
Results: 16
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 778, doi. 10.1038/sj.ejhg.5200363
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Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 783, doi. 10.1038/sj.ejhg.5200365
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Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 757, doi. 10.1038/sj.ejhg.5200368
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Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 791, doi. 10.1038/sj.ejhg.5200369
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Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 765, doi. 10.1038/sj.ejhg.5200370
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BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 833, doi. 10.1038/sj.ejhg.5200371
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A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 841, doi. 10.1038/sj.ejhg.5200372
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Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 801, doi. 10.1038/sj.ejhg.5200373
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Analysis of FMR1 (CGG)<sub>n</sub> alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 771, doi. 10.1038/sj.ejhg.5200374
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Revised exon–intron structure of human JAK3 locus.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 837, doi. 10.1038/sj.ejhg.5200375
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Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 828, doi. 10.1038/sj.ejhg.5200376
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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 807, doi. 10.1038/sj.ejhg.5200377
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FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 748, doi. 10.1038/sj.ejhg.5200378
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Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 821, doi. 10.1038/sj.ejhg.5200381
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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 815, doi. 10.1038/sj.ejhg.5200385
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A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 737, doi. 10.1038/sj.ejhg.5200396
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