Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 7
Results: 13
The spectrum of Familial Mediterranean Fever (FMF) mutations.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200658
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Linear increase of diploidy in human sperm with age: A four-colour FISH study.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 533, doi. 10.1038/sj.ejhg.5200659
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No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 556, doi. 10.1038/sj.ejhg.5200660
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Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200661
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Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 501, doi. 10.1038/sj.ejhg.5200665
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Best practice guidelines for molecular analysis in spinal muscular atrophy.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 484, doi. 10.1038/sj.ejhg.5200667
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Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 492, doi. 10.1038/sj.ejhg.5200668
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Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 539, doi. 10.1038/sj.ejhg.5200669
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200670
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Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 559, doi. 10.1038/sj.ejhg.5200671
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Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 553, doi. 10.1038/sj.ejhg.5200674
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MUC1 gene polymorphism in the gastric carcinogenesis pathway.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 548, doi. 10.1038/sj.ejhg.5200677
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Functional characterization of novel mutations in the human cytochrome b gene.
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- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 510, doi. 10.1038/sj.ejhg.5200678
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- Article