Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 6
Results: 21
Exclusion of the SCN2B gene as candidate for CMT4B.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 629, doi. 10.1038/sj.ejhg.5200220
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Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2).
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 534, doi. 10.1038/sj.ejhg.5200222
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Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 583, doi. 10.1038/sj.ejhg.5200223
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Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 589, doi. 10.1038/sj.ejhg.5200224
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A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 635, doi. 10.1038/sj.ejhg.5200225
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X-linked ocular albinism: prevalence and mutations – a national study.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 570, doi. 10.1038/sj.ejhg.5200226
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- Article
Germline mosaicism in Coffin-Lowry syndrome.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 578, doi. 10.1038/sj.ejhg.5200230
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Different ancestor alleles: a reason for the bimodal fragment size distribution in the minisatellite D2S44 (YNH24).
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 597, doi. 10.1038/sj.ejhg.5200232
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Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200233
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Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 603, doi. 10.1038/sj.ejhg.5200234
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Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 624, doi. 10.1038/sj.ejhg.5200235
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- Article
Genetic homogeneity of lysinuric protein intolerance.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 612, doi. 10.1038/sj.ejhg.5200236
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His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 616, doi. 10.1038/sj.ejhg.5200237
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Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 563, doi. 10.1038/sj.ejhg.5200239
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Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 642, doi. 10.1038/sj.ejhg.5200245
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- Article
Genetic linkage of Meleda disease to chromosome 8qter.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 542, doi. 10.1038/sj.ejhg.5200254
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Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 552, doi. 10.1038/sj.ejhg.5200255
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Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 548, doi. 10.1038/sj.ejhg.5200261
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Author index.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 647, doi. 10.1038/sj.ejhg.5200275
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- Article
Keyword index.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 650, doi. 10.1038/sj.ejhg.5200276
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- Article
Chinese amend policy on sterilisation for genetic reasons.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 533, doi. 10.1038/sj.ejhg.5200282
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