Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 8
Results: 17
MtDNA-related idiopathic dilated cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380
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- Publication type:
- Article
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 849, doi. 10.1038/sj.ejhg.5200382
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- Article
Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 860, doi. 10.1038/sj.ejhg.5200383
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- Article
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 920, doi. 10.1038/sj.ejhg.5200384
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- Article
Multiple APC mutations in sporadic flat colorectal adenomas.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 928, doi. 10.1038/sj.ejhg.5200386
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- Publication type:
- Article
Germline and gonosomal mosaicism in the ATR-X syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 933, doi. 10.1038/sj.ejhg.5200387
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- Article
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 873
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- Article
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 937, doi. 10.1038/sj.ejhg.5200390
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- Article
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G<sup>3145</sup>TG/A<sup>3145</sup>TG).
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 889, doi. 10.1038/sj.ejhg.5200392
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- Article
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 897, doi. 10.1038/sj.ejhg.5200395
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- Article
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 884, doi. 10.1038/sj.ejhg.5200398
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- Article
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 903, doi. 10.1038/sj.ejhg.5200399
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- Article
Probing the Gene eXpression Database for candidate genes.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 910, doi. 10.1038/sj.ejhg.5200405
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- Publication type:
- Article
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 941, doi. 10.1038/sj.ejhg.5200410
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- Article
Corrigendum.
- Published in:
- 1999
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- Correction Notice
Author index.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 945, doi. 10.1038/sj.ejhg.5200413
- Publication type:
- Article
Keyword index.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 949, doi. 10.1038/sj.ejhg.5200414
- Publication type:
- Article