Found: 17
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Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 409, doi. 10.1038/sj.ejhg.5200299
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- Article
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 496, doi. 10.1038/sj.ejhg.5200277
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- Article
Commentary: FISHing for the light at the ends of chromosomes.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 515, doi. 10.1038/sj.ejhg.5200306
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- Article
A case of discordance between genotype and phenotype in a malignant hyperthermia family.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 415, doi. 10.1038/sj.ejhg.5200314
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- Article
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 505, doi. 10.1038/sj.ejhg.5200315
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- Article
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 447, doi. 10.1038/sj.ejhg.5200316
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- Article
Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 435, doi. 10.1038/sj.ejhg.5200317
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- Article
Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 427, doi. 10.1038/sj.ejhg.5200318
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- Article
Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3′ exons.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 487, doi. 10.1038/sj.ejhg.5200321
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- Article
Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 469, doi. 10.1038/sj.ejhg.5200322
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- Article
Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 499, doi. 10.1038/sj.ejhg.5200324
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- Article
Analysis of mtDNA HVRII in several human populations using an immobilised SSO probe hybridisation assay.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 459, doi. 10.1038/sj.ejhg.5200326
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- Article
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 421, doi. 10.1038/sj.ejhg.5200333
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- Article
A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3.
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 478, doi. 10.1038/sj.ejhg.5200334
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- Article
Testing tumors for microsatellite instability.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 407, doi. 10.1038/sj.ejhg.5200335
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- Article
Book review.
- Published in:
- 1999
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- Publication type:
- Book Review
A tale of tags: report on a HUGO/EU SAGE Workshop, 29 January–1 February 1999, Hilversum, The Netherlands.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 510, doi. 10.1038/sj.ejhg.5200345
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- Article