Works matching IS 16618769 AND DT 2012 AND VI 2 AND IP 3-5

Results: 13

The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 164, doi. 10.1159/000337496

By:

Zweier, M.;
Rauch, A.

Publication type:

Article

Pitt-Hopkins Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 171, doi. 10.1159/000335287

By:

Peippo, M.;
Ignatius, J.

Publication type:

Article

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 181, doi. 10.1159/000331270

By:

Zweier, C.

Publication type:

Article

Editorial.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 99, doi. 10.1159/000337494

By:

Rauch, Anita

Publication type:

Article

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 186, doi. 10.1159/000334260

By:

Phelan, K.;
McDermid, H.E.

Publication type:

Article

MECP2 Duplication Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 128, doi. 10.1159/000329580

By:

Van Esch, H.

Publication type:

Article

Molecular and Clinical Aspects of Angelman Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 100, doi. 10.1159/000328837

By:

Dagli, A.;
Buiting, K.;
Williams, C.A.

Publication type:

Article

Rett Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 113, doi. 10.1159/000337637

By:

Smeets, E.E.J.;
Pelc, K.;
Dan, B.

Publication type:

Article

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 153, doi. 10.1159/000327329

By:

Florian, C.;
Bahi-Buisson, N.;
Bienvenu, T.

Publication type:

Article

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 137, doi. 10.1159/000331333

By:

Bahi-Buisson, N.;
Bienvenu, T.

Publication type:

Article

Update on Kleefstra Syndrome.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 202, doi. 10.1159/000335648

By:

Willemsen, M.H.;
Vulto-van Silfhout, A.T.;
Nillesen, W.M.;
Wissink-Lindhout, W.M.;
van Bokhoven, H.;
Philip, N.;
Berry-Kravis, E.M.;
Kini, U.;
van Ravenswaaij-Arts, C.M.A.;
Delle Chiaie, B.;
Innes, A.M.M.;
Houge, G.;
Kosonen, T.;
Cremer, K.;
Fannemel, M.;
Stray-Pedersen, A.;
Reardon, W.;
Ignatius, J.;
Lachlan, K.;
Mircher, C.

Publication type:

Article

Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 213, doi. 10.1159/000330916

By:

Horn, D.

Publication type:

Article

Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Published in:

Molecular Syndromology, 2012, v. 2, n. 3-5, p. 217, doi. 10.1159/000335661

By:

Willemsen, M.H.;
Rensen, J.H.M.;
van Schrojenstein-Lantman de Valk, H.M.J.;
Hamel, B.C.J.;
Kleefstra, T.

Publication type:

Article