Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 8
Results: 14
Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 604, doi. 10.1038/sj.ejhg.5200482
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Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200497
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- Article
A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 571, doi. 10.1038/sj.ejhg.5200499
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- Article
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 637, doi. 10.1038/sj.ejhg.5200500
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- Article
Mole maker phenotype: possible narrowing of the candidate region.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 641, doi. 10.1038/sj.ejhg.5200501
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- Article
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 578, doi. 10.1038/sj.ejhg.5200503
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- Article
Stability and haplotype analysis of the FRAXE region.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 583, doi. 10.1038/sj.ejhg.5200504
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- Article
Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200505
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- Article
Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 645, doi. 10.1038/sj.ejhg.5200507
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- Article
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 613, doi. 10.1038/sj.ejhg.5200508
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- Article
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 597, doi. 10.1038/sj.ejhg.5200509
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- Article
Identification of genetic heterogeneity in Refsum's disease.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 649, doi. 10.1038/sj.ejhg.5200511
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- Article
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 621, doi. 10.1038/sj.ejhg.5200516
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- Article
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 631, doi. 10.1038/sj.ejhg.5200517
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- Article