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Works matching IS 16618769 AND DT 2012 AND VI 2 AND IP 6

Results: 6

1

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 6, p. 237, doi. 10.1159/000337323

By:

Wolff, D.;
Endele, S.;
Azzarello-Burri, S.;
Hoyer, J.;
Zweier, M.;
Schanze, I.;
Schmitt, B.;
Rauch, A.;
Reis, A.;
Zweier, C.

Publication type:

Article

2

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 6, p. 245, doi. 10.1159/000336191

By:

Vulto-van Silfhout, A.T.;
de Brouwer, A.P.M.;
de Leeuw, N.;
Obihara, C.C.;
Brunner, H.G.;
de Vries, B.B.A.

Publication type:

Article

3

RE(ACT)<sup>®</sup>: INTERNATIONAL CONGRESS ON RESEARCH ON RARE AND ORPHAN DISEASES.

Published in:: Molecular Syndromology, 2012, v. 2, n. 6, p. 262, doi. 10.1159/000336858
Publication type:: Article

4

LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.

Published in:

Molecular Syndromology, 2012, v. 2, n. 6, p. 251, doi. 10.1159/000335995

By:

Martínez-Quintana, E.;
Rodríguez-González, F.

Publication type:

Article

5

Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.

Published in:

Molecular Syndromology, 2012, v. 2, n. 6, p. 254, doi. 10.1159/000336581

By:

Matsushita, M.;
Kitoh, H.;
Kaneko, H.;
Mishima, K.;
Itoh, Y.;
Hattori, T.;
Ishiguro, N.

Publication type:

Article

6

Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Published in:

Molecular Syndromology, 2012, v. 2, n. 6, p. 259, doi. 10.1159/000337925

By:

Palka, C.;
Alfonsi, M.;
Mohn, A.;
Guanciali Franchi, P.;
Chiarelli, F.;
Calabrese, G.

Publication type:

Article