Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 3
Results: 13
DNA arrays: methods and applications: report on HUGO Meeting, Tartu, Estonia, 23–26 May, 1999.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 236, doi. 10.1038/sj.ejhg.5200416
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Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 204, doi. 10.1038/sj.ejhg.5200418
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FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 157, doi. 10.1038/sj.ejhg.5200425
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Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 163, doi. 10.1038/sj.ejhg.5200426
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FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 167, doi. 10.1038/sj.ejhg.5200431
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Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 229, doi. 10.1038/sj.ejhg.5200433
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Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 209, doi. 10.1038/sj.ejhg.5200434
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WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 215, doi. 10.1038/sj.ejhg.5200435
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Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 223, doi. 10.1038/sj.ejhg.5200436
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The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 174, doi. 10.1038/sj.ejhg.5200439
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Accuracy of family history of cancer: clinical genetic implications.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 181, doi. 10.1038/sj.ejhg.5200441
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Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 187
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Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 195, doi. 10.1038/sj.ejhg.5200444
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