Works matching IS 00099163 AND DT 2003 AND VI 64 AND IP 6

Results: 14

Erratum.

Published in:: 2003
Publication type:: Correction Notice

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.

Published in:

2003

By:

Squitieri, F.;
Almqvist, E.W.;
Cannella, M.;
Cislaghi, G.;
Hayden, M.R.

Publication type:

Letter

Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed.

Published in:

2003

By:

Kannu, P.;
Aftimos, S.;
Winship, I.

Publication type:

Letter

Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?

Published in:

2003

By:

Gisselsson, D.;
Kristoffersson, U.;
Giwercman, A.

Publication type:

Letter

Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France.

Published in:

2003

By:

Lucotte, Gérard

Publication type:

Letter

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 509, doi. 10.1046/j.1399-0004.2003.00189.x

By:

Milunsky, J.M.;
Huang, X.L.

Publication type:

Article

Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania--Kujawy region of Poland.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 502, doi. 10.1046/j.1399-0004.2003.00178.x

By:

Janiszewska, H.;
Haus, O.;
Lauda-Świeciak, A.;
Pasińnska, M.;
Laskowski, R.;
Szymański, W.;
Górski, B.;
Lubiński, J.

Publication type:

Article

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 497, doi. 10.1046/j.1399-0004.2003.00176.x

By:

Pescucci, C.;
Meloni, I.;
Bruttini, M.;
Ariani, F.;
Longo, I.;
Mari, F.;
Canitano, R.;
Hayek, G.;
Zappella, M.;
Renieri, A.

Publication type:

Article

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 491

By:

Martínez-Garay, I.;
Ballesta, M.J.;
Oltra, S.;
Orellana, C.;
Palomeque, A.;
Moltó, M.D.;
Prieto, F.;
Martínez, F.

Publication type:

Article

Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 485, doi. 10.1046/j.1399-0004.2003.00162.x

By:

Cha, S.C.;
Jang, Y.S.;
Lee, J.H.;
Kim, H.K.;
Kim, S.C.;
Kim, S.;
Baek, S.-H.;
Jung, W.S.;
Kim, J.-R.

Publication type:

Article

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 479, doi. 10.1046/j.1399-0004.2003.00179.x

By:

Gu, Y.-H.;
Kodama, H.;
Du, S.-L.;
Gu, Q.-J.;
Sun, H.-J.;
Ushijima, H.

Publication type:

Article

Hot Spots.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 473

By:

Haigh, B.

Publication type:

Article

Notch signaling in development and disease.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 461, doi. 10.1046/j.1399-0004.2003.00194.x

By:

Harper, J.A.;
Yuan, J.S.;
Tan, J.B.;
Visan, I.;
Guidos, C.J.

Publication type:

Article

Involvement of gene--diet/drug interaction in DNA methylation and its contribution to complex diseases: from cancer to schizophrenia.

Published in:

Clinical Genetics, 2003, v. 64, n. 6, p. 451, doi. 10.1046/j.1399-0004.2003.00190.x

By:

Singh, S.M.;
Murphy, B.;
O'Reily, R.L.

Publication type:

Article