Works matching IS 00099163 AND DT 2004 AND VI 66 AND IP 2

Results: 13

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:
- Thiffault, I.;
- Foulkes, W.D.;
- Marcus, V.A.;
- Farber, D.;
- Kasprzak, L.;
- MacNamara, E.;
- Wong, N.;
- Hutter, P.;
- Radice, P.;
- Bertario, L.;
- Chong, G.
Publication type:
Article
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:
- Faiyaz-Ul-Haque, M.;
- Ahmad, W.;
- Zaidi, S.H.E.;
- Hussain, S.;
- Haque, S.;
- Ahmad, M.;
- Cohn, D.H.;
- Tsui, L.-C.
Publication type:
Article
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:
- Aalfs, C.M.;
- Mollema, E.D.;
- Oort, F.J.;
- de Haes, J.C.J.M.;
- Leschot, N.J.;
- Smets, E.M.A.
Publication type:
Article
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:
- Seeman, P.;
- Maliková, M.;
- Raškova, D.;
- Bendová, O.;
- Groh, D.;
- Kubálkova, M.;
- Sakmaryová, I.;
- Seemanová, E.;
- Kabelka, Z.
Publication type:
Article
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:
- Spinelli, L.;
- Pisani, A.;
- Sabbatini, M.;
- Petretta, M.;
- Andreucci, M.V.;
- Procaccini, D.;
- Lo Surdo, N.;
- Federico, S.;
- Cianciaruso, B.
Publication type:
Article
Detection of CYP3A4* 1B and CYP3A4* 2 polymorphisms by RFLP. Distribution frequencies in a Mexican population.
Published in:
2004
By:
- Reyes-Hernández, O.D.;
- Arteaga-Illán, G.;
- Elizondo, G.
Publication type:
Letter
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:
- Borck, G.;
- Rio, M.;
- Sanlaville, D.;
- Redon, R.;
- Molinari, F.;
- Bacq, D.;
- Raoul, O.;
- Cormier-Daire, V.;
- Lyonnet, S.;
- Amiel, J.;
- Le Merrer, M.;
- de Blois, M.-C.;
- Prieur, M.;
- Vekemans, M.;
- Carter, N.P.;
- Munnich, A.;
- Colleaux, L.
Publication type:
Article
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:
- Yatsenko, S.A.;
- Yatsenko, A.N.;
- Szigeti, K.;
- Craigen, W.J.;
- Staniewicz, P.;
- Cheung, S.W.;
- Lupski, J.R.
Publication type:
Article
So many asthma loci, so little time.
Published in:
2004
By:
- Orban, Paul C.;
- Gibson, William T.
Publication type:
Other
Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome.
Published in:
2004
By:
- Warby, Simon
Publication type:
Other
Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasias.
Published in:
2004
By:
- Gibson, William T.
Publication type:
Other
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:
- Delrue, M.-A.;
- Michaud, J.L.
Publication type:
Article
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:
- Tadin-Strapps, M.;
- Warburton, D.;
- Salas-Alanis, J.C.;
- Lopez-Cepeda, L.D.;
- Christiano, A.M.
Publication type:
Article