Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 8
Results: 18
Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 678, doi. 10.1038/sj.ejhg.5201184
- By:
- Publication type:
- Article
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 673, doi. 10.1038/sj.ejhg.5201190
- By:
- Publication type:
- Article
Genetics of mitochondrial diseases.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198
- By:
- Publication type:
- Article
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 604, doi. 10.1038/sj.ejhg.5201199
- By:
- Publication type:
- Article
Chromosome Abnormalities and Genetic Counselling.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 627, doi. 10.1038/sj.ejhg.5201204
- By:
- Publication type:
- Article
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 613, doi. 10.1038/sj.ejhg.5201205
- By:
- Publication type:
- Article
BRCA1/2 predictive testing: a study of uptake in two centres.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 654, doi. 10.1038/sj.ejhg.5201206
- By:
- Publication type:
- Article
Claes Lundsteen-in Memoriam.
- Published in:
- 2004
- By:
- Publication type:
- Obituary
BRCA1 and sex ratio.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 663, doi. 10.1038/sj.ejhg.5201210
- By:
- Publication type:
- Article
Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 668, doi. 10.1038/sj.ejhg.5201209
- By:
- Publication type:
- Article
Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 647, doi. 10.1038/sj.ejhg.5201211
- By:
- Publication type:
- Article
Application of microarrays to the analysis of the inactivation status of human X-linked genes expressed in lymphocytes.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 639, doi. 10.1038/sj.ejhg.5201212
- By:
- Publication type:
- Article
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 620, doi. 10.1038/sj.ejhg.5201214
- By:
- Publication type:
- Article
TEAM: a tool for the integration of expression, and linkage and association maps.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 633, doi. 10.1038/sj.ejhg.5201215
- By:
- Publication type:
- Article
Lipoxygenases at the heart of atherosclerosis susceptibility.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 601, doi. 10.1038/sj.ejhg.5201231
- By:
- Publication type:
- Article
Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity.
- Published in:
- 2004
- By:
- Publication type:
- Correction Notice