Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 137, doi. 10.1111/j.1399-0004.2004.00274.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2004 AND VI 66 AND IP 2
Results: 13
1
2
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 144, doi. 10.1111/j.1399-0004.2004.00275.x
- By:
- Publication type:
- Article
3
Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 112, doi. 10.1111/j.0009-9163.2004.00279.x
- By:
- Publication type:
- Article
4
Spectrum and frequencies of mutations in the GJB2 ( Cx26) gene among 156 Czech patients with pre-lingual deafness.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 152, doi. 10.1111/j.1399-0004.2004.00283.x
- By:
- Publication type:
- Article
5
Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 158, doi. 10.1111/j.1399-0004.2004.00284.x
- By:
- Publication type:
- Article
6
Detection of CYP3A4* 1B and CYP3A4* 2 polymorphisms by RFLP. Distribution frequencies in a Mexican population.
- Published in:
- 2004
- By:
- Publication type:
- Letter
7
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 122, doi. 10.1111/j.1399-0004.2004.00288.x
- By:
- Publication type:
- Article
8
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 128, doi. 10.1111/j.1399-0004.2004.00290.x
- By:
- Publication type:
- Article
9
So many asthma loci, so little time.
- Published in:
- 2004
- By:
- Publication type:
- Other
10
Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome.
- Published in:
- 2004
- By:
- Publication type:
- Other
11
Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasias.
- Published in:
- 2004
- By:
- Publication type:
- Other
12
Fat chance: genetic syndromes with obesity.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 83, doi. 10.1111/j.0009-9163.2004.00300.x
- By:
- Publication type:
- Article
13
Fishing for new genes in skin biology: impact of cytogenetics on gene discovery.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 94, doi. 10.1111/j.0009-9163.2004.00301.x
- By:
- Publication type:
- Article