Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 12

Results: 11

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1254, doi. 10.1038/sj.ejhg.5201478

By:

Tuffery-Giraud, Sylvie;
Saquet, Céline;
Thorel, Delphine;
Disset, Antoine;
Rivier, François;
Malcolm, Sue;
Claustres, Mireille

Publication type:

Article

Analysis of four neuroligin genes as candidates for autism.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1285, doi. 10.1038/sj.ejhg.5201474

By:

Ylisaukko-oja, Tero;
Rehnström, Karola;
Auranen, Mari;
Vanhala, Raija;
Alen, Reija;
Kempas, Elli;
Ellonen, Pekka;
Turunen, Joni A.;
Makkonen, Ismo;
Riikonen, Raili;
Nieminen-von Wendt, Taina;
von Wendt, Lennart;
Peltonen, Leena;
Järvelä, Irma

Publication type:

Article

Molecular diagnosis of human cancer type by gene expression profiles and independent component analysis.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1303, doi. 10.1038/sj.ejhg.5201495

By:

Xue Wu Zhang;
Yee Leng Yap;
Dong Wei;
Feng Chen;
Danchin, Antoine

Publication type:

Article

The place of the Basques in the European Y-chromosome diversity landscape.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1293, doi. 10.1038/sj.ejhg.5201482

By:

Alonso, Santos;
Flores, Carlos;
Cabrera, Vicente;
Alonso, Antonio;
Martín, Pablo;
Albarrán, Cristina;
Izagirre, Neskuts;
de la Rúa, Concepción;
García, Oscar

Publication type:

Article

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1268, doi. 10.1038/sj.ejhg.5201492

By:

Malik, Sajid;
Schott, Jörg;
Ali, Syed Wajahat;
Oeffner, Frank;
Amin-ud-Din, Muhammad;
Ahmad, Wasim;
Grzeschik, Karl-Heinz;
Koch, Manuela C.

Publication type:

Article

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1261, doi. 10.1038/sj.ejhg.5201493

By:

Peyrard-Janvid, Myriam;
Pegelow, Marie;
Koillinen, Hannele;
Larsson, Catharina;
Fransson, Ingegerd;
Rautio, Jorma;
Hukki, Jyri;
Larson, Ola;
Karsten, Agneta L.-A.;
Kere, Juha

Publication type:

Article

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1275, doi. 10.1038/sj.ejhg.5201491

By:

Hansen, Lars;
Eiberg, Hans;
Barrett, Timothy;
Bek, Toke;
Kjaersgaard, Per;
Tranebjaeg, Lisbeth;
Rosenberg, Thomas

Publication type:

Article

Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.

Published in:

2005

By:

Cotter, Philip D.;
Hieu Nguyen;
Tung, Gloria;
Rauen, Katherine A.

Publication type:

Letter

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1247, doi. 10.1038/sj.ejhg.5201496

By:

Fouchier, Sigrid W.;
Rodenburg, Jessica;
Defesche, Joep C.;
Kastelein, John J. P.

Publication type:

Article

Myotonic dystrophy-time to improve patient care and prepare for pathogenesis based treatments.

Published in:

2005

By:

Huson, Susan M.

Publication type:

Book Review

Complex disease: Pleiotropic gene effects in obesity and type 2 diabetes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1243, doi. 10.1038/sj.ejhg.5201514

By:

Barroso, Inês

Publication type:

Article