Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 8
Results: 15
Familial Mediterranean fever: prevalence, penetrance and genetic drift.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 634, doi. 10.1038/sj.ejhg.5200672
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- Article
Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 572, doi. 10.1038/sj.ejhg.5200673
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- Article
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675
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- Article
TP63 gene mutation in ADULT syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 642, doi. 10.1038/sj.ejhg.5200676
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- Article
A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 583, doi. 10.1038/sj.ejhg.5200679
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- Article
A genome screen for multiple sclerosis in Sardinian multiplex families.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 621, doi. 10.1038/sj.ejhg.5200680
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- Article
Incorporation of covariates in multipoint model-free linkage analysis of binary traits: how important are unaffecteds?
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 613
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Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 599
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Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 638, doi. 10.1038/sj.ejhg.5200684
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- Article
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 646, doi. 10.1038/sj.ejhg.5200686
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- Article
Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3).
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 627, doi. 10.1038/sj.ejhg.5200687
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- Article
Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200688
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- Article
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200689
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- Article
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 606, doi. 10.1038/sj.ejhg.5200690
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- Article
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 651, doi. 10.1038/sj.ejhg.5200691
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- Article