Works matching IS 00099163 AND DT 2005 AND VI 68 AND IP 4

Results: 13

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 373, doi. 10.1111/j.1399-0004.2005.00493.x

By:

Fernández, L.;
Lapunzina, P.;
Arjona, D.;
López Pajares, I.;
García-Guereta, L.;
Elorza, D.;
Burgueros, M.;
De Torres, M. L.;
Mori, M. A.;
Palomares, M.;
García-Alix, A.;
Delicado, A.

Publication type:

Article

A new Marfan-like syndrome caused by perturbed transforming growth factor-β signaling.

Published in:

2005

By:

Gibson, W. T.

Publication type:

Other

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.

Published in:

2005

By:

Kleefstra, T.;
Rosenberg, E. H.;
Salomons, G. S.;
Stroink, H.;
van Bokhoven, H.;
Hamel, B. C. J.;
de Vries, B. B. A.

Publication type:

Letter

Population history and its impact on medical genetics in Quebec.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 287, doi. 10.1111/j.1399-0004.2005.00497.x

By:

Laberge, A.-M.;
Michaud, J.;
Richter, A.;
Lemyre, E.;
Lambert, M.;
Brais, B.;
Mitchell, G. A.

Publication type:

Article

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 349, doi. 10.1111/j.1399-0004.2005.00498.x

By:

Fernandez, B. A.;
Siegel-Bartelt, J.;
Herbrick, J.-A. S.;
Teshima, I.;
Scherer, S. W.

Publication type:

Article

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 337, doi. 10.1111/j.1399-0004.2005.00499.x

By:

Enns, G. M.;
Hoppel, C. L.;
DeArmond, S. J.;
Schelley, S.;
Bass, N.;
Weisiger, K.;
Horoupian, D.;
Packman, S.

Publication type:

Article

Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 360, doi. 10.1111/j.1399-0004.2005.00502.x

By:

van Langen, I. M.;
Birnie, E.;
Schuurman, E.;
Tan, H. L.;
Hofman, N.;
Bonsel, G. J.;
Wilde, A. A. M.

Publication type:

Article

The hemoglobinopathies and malaria.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 332, doi. 10.1111/j.1399-0004.2005.00503.x

By:

Richer, J.;
Chudley, A. E.;
Chudley, Albert E.

Publication type:

Article

Coagulating evidence for a new genetic link to drug responsiveness to warfarin therapy.

Published in:

2005

By:

Ross, C. J. D.

Publication type:

Other

Gene therapy provides hope for the treatment of arthritis.

Published in:

2005

By:

Ross, C. J. D.

Publication type:

Other

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 302, doi. 10.1111/j.1399-0004.2005.00508.x

By:

Bongers, E. M. H. F.;
van Kampen, A.;
van Bokhoven, H.;
Knoers, N. V. A. M.

Publication type:

Article

Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 320, doi. 10.1111/j.1399-0004.2005.00509.x

By:

Biesecker, L. G.

Publication type:

Article

Polymorphisms in the apolipoprotein A5 ( APOA5) gene and type III hyperlipidemia.

Published in:

Clinical Genetics, 2005, v. 68, n. 4, p. 369, doi. 10.1111/j.1399-0004.2005.00510.x

By:

Evans, D.;
Seedorf, U.;
Beil, F. U.

Publication type:

Article