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

Results: 13

Editorial.
Published in:
Molecular Syndromology, 2012, v. 2, n. 3-5, p. 99, doi. 10.1159/000337494
By:
- Rauch, Anita
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
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
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
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
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
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
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