Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 5
Results: 16
Maternal UPD 20 in a hyperactive child with severe growth retardation.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 533, doi. 10.1038/sj.ejhg.5200287
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Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 560, doi. 10.1038/sj.ejhg.5200319
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Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 541, doi. 10.1038/sj.ejhg.5200320
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Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 555, doi. 10.1038/sj.ejhg.5200325
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Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 549, doi. 10.1038/sj.ejhg.5200327
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Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – A GISC study.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 567, doi. 10.1038/sj.ejhg.5200328
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Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 574, doi. 10.1038/sj.ejhg.5200332
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Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 585
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Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 599, doi. 10.1038/sj.ejhg.5200337
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Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 590, doi. 10.1038/sj.ejhg.5200338
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Molecular and clinical examination of an Italian DEFECT 11 family.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 579, doi. 10.1038/sj.ejhg.5200339
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Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 615, doi. 10.1038/sj.ejhg.5200341
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Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 519, doi. 10.1038/sj.ejhg.5200346
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Further characteristics of proto-European Y chromosomes.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 603, doi. 10.1038/sj.ejhg.5200347
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Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 526, doi. 10.1038/sj.ejhg.5200348
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Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 609, doi. 10.1038/sj.ejhg.5200350
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