Works matching IS 00099163 AND DT 2004 AND VI 66 AND IP 6

Results: 23

Cascade genetic screening for familial hypercholesterolemia.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 483, doi. 10.1111/j.1399-0004.2004.00320.x

By:

Leren, T. P.

Publication type:

Article

Microarray-based comparative genomic hybridization and its applications in human genetics.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 488, doi. 10.1111/j.1399-0004.2004.00322.x

By:

Oostlander, A. E.;
Meijer, G. A.;
Ylstra, B.

Publication type:

Article

Autism in Angelman syndrome: implications for autism research.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 530, doi. 10.1111/j.1399-0004.2004.00362.x

By:

Peters, S. U.;
Beaudet, A. L.;
Madduri, N.;
Bacino, C. A.

Publication type:

Article

DHCR7mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 517, doi. 10.1111/j.1399-0004.2004.00350.x

By:

Ciara, E.;
Nowaczyk, M. J. M.;
Witsch-Baumgartner, M.;
Malunowicz, E.;
Popowska, E.;
Jezela-Stanek, A.;
Piotrowicz, M.;
Waye, J. S.;
Utermann, G.;
Krajewska-Walasek, M.

Publication type:

Article

‘It's (not) only teeth’.

Published in:

2004

By:

Crawford, P. J. M.;
Aldred, M. J.;
Savarirayan, R.;
Savulescu, J.

Publication type:

Letter

Genetic counseling for women with breast cancer: the importance of evaluating the spouse.

Published in:

2004

By:

Allweis, T. M.;
Sagi, M.;
Peretz, T.

Publication type:

Letter

Smallde novoduplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 496, doi. 10.1111/j.1399-0004.2004.00356.x

By:

Shatunov, A.;
Fridman, E. A.;
Pagan, F. I.;
Leib, J.;
Singleton, A.;
Hallett, M.;
Goldfarb, L. G.

Publication type:

Article

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 556, doi. 10.1111/j.1399-0004.2004.00341.x

By:

Brusgaard, K.;
Kjeldsen, A. D.;
Poulsen, L.;
Moss, H.;
Vase, P.;
Rasmussen, K.;
Kruse, T. A.;
Hørder, M.

Publication type:

Article

Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 502, doi. 10.1111/j.1399-0004.2004.00339.x

By:

Meiser, B.;
Collins, V.;
Warren, R.;
Gaff, C.;
St John, D. J. B.;
Young, M-A.;
Harrop, K.;
Brown, J.;
Halliday, J.

Publication type:

Article

Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome)– report of a second family.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 550, doi. 10.1111/j.1399-0004.2004.00349.x

By:

Tischkowitz, M.;
Goodman, F.;
Koliou, M.;
Webster, D.;
Edery, P.;
Jones, A.;
Wilson, L. C.

Publication type:

Article

Mutation screening ofUSH3gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 525, doi. 10.1111/j.1399-0004.2004.00352.x

By:

Aller, E.;
Jaijo, T.;
Oltra, S.;
Alió, J.;
Galán, F;
Nájera, C.;
Beneyto, M.;
Millán, J. M.

Publication type:

Article

Health motivation and emotional vigilance in genetic testing for prostate cancer risk.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 512, doi. 10.1111/j.1399-0004.2004.00351.x

By:

Li, Y.;
Doukas, D. J.

Publication type:

Article

It's only teeth– limits to genetic testing? A response to Aldred, Crawford, Savarirayan, and Savulescu.

Published in:

2004

By:

Boddington, P.;
Clarke, A.

Publication type:

Letter

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 537, doi. 10.1111/j.1399-0004.2004.00363.x

By:

Shrimpton, A. E.;
Braddock, B. R.;
Thomson, L. L.;
Stein, C. K.;
Hoo, J. J.

Publication type:

Article

Subject index.

Published in:: Clinical Genetics, 2004, v. 66, n. 6, p. i, doi. 10.1111/j.1399-0004.2004.00385.x
Publication type:: Article

Chondrodysplasia punctata in siblings and maternal lupus erythematosus.

Published in:

Clinical Genetics, 2004, v. 66, n. 6, p. 545, doi. 10.1111/j.1399-0004.2004.00364.x

By:

Kozlowski, K;
Basel, D;
Beighton, P

Publication type:

Article

Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma.

Published in:

2004

By:

Abu-Amero, K.;
Zou, M.;
Shi, Y.

Publication type:

Letter

PMS2 mutations in HNPCC.

Published in:

2004

By:

Hayward, B. E.;
De Vos, M;
Sheridan, E.;
Bonthron, D. T.

Publication type:

Letter

Response to De Vos et al.

Published in:

2004

By:

Scott, R. J.;
Meldrum, C. J.

Publication type:

Letter

Allelic heterogeneity of Crigler–Najjar type I syndrome: a study of 24 cases.

Published in:

2004

By:

Petit, F. M.;
Gajdos, V.;
Francoual, J.;
Capel, L.;
Parisot, F.;
Poüs, C.;
Labrune, P.

Publication type:

Letter

Mutational analysis of theα-l-iduronidasegene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations.

Published in:

2004

By:

Lee, I. J.;
Hwang, S. H.;
Jeon, B. H.;
Song, S. M.;
Kim, J. S.;
Paik, K. H.;
Kwon, E. K.;
Jin, D-K.

Publication type:

Letter

Author index.

Published in:: Clinical Genetics, 2004, v. 66, n. 6, p. iii, doi. 10.1111/j.1399-0004.2004.00383.x
Publication type:: Article

Erratum.

Published in:: 2004
Publication type:: Correction Notice