Works matching IS 16618769 AND DT 2016 AND VI 7 AND IP 6

Results: 7

Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 302, doi. 10.1159/000449296

By:

Bell, Scott;
Kolobova, Ilaria;
Crapper, Liam;
Ernst, Carl

Publication type:

Article

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 337, doi. 10.1159/000450718

By:

Maini, Ilenia;
Ivanovski, Ivan;
Iodice, Alessandro;
Rosato, Simonetta;
Pollazzon, Marzia;
Mussini, Manuela;
Belligni, Elga F.;
Coutton, Charles;
Marinelli, Maria;
Barbieri, Veronica;
Napoli, Manuela;
Pascarella, Rosario;
Sartori, Chiara;
Madia, Francesca;
Fusco, Carlo;
Franchi, Fabrizia;
Street, Maria E.;
Garavelli, Livia

Publication type:

Article

Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 329, doi. 10.1159/000450631

By:

Vianna, Gabrielle S.;
Freitas, Mariana L.;
de Oliveira, Valdirene T.;
Pietra, Rafaella X.;
Gonçalves, Michele da S.;
Rocha, Patrícia P. O.;
Monteiro, Rejane A. C.;
Ferreira, Luana C. A.;
Xavier, Rosana R.;
Carvalho, Andréia M.;
de M. Lima, Patrícia R.;
Monteiro, Maria Augusta N. P.;
Mateo, Elvis C.;
Giannetti, Juliana G.;
César, Giovana da C.;
Lima, Joziele de S.;
Medeiros, Paula F. V.;
Jehee, Fernanda S.

Publication type:

Article

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 322, doi. 10.1159/000449115

By:

Xu, Jessie X.;
Kilpatrick, Nicky;
Baker, Naomi L.;
Penington, Anthony;
Farlie, Peter G.;
Tiong Yang Tan

Publication type:

Article

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 312, doi. 10.1159/000450533

By:

Farlie, Peter G.;
Baker, Naomi L.;
Yap, Patrick;
Tan, Tiong Y.

Publication type:

Article

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 344, doi. 10.1159/000450971

By:

Gamba, Bruno F.;
Zechi-Ceide, Roseli M.;
Kokitsu-Nakata, Nancy M.;
Vendramini-Pittoli, Siulan;
Rosenberg, Carla;
Krepischi Santos, Ana C. V.;
Ribeiro-Bicudo, Lucilene;
Richieri-Costa, Antonio

Publication type:

Article

Discovering Patterns of Structural Variation by Mining Molecular Fossils.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 299, doi. 10.1159/000450807

By:

Poot, Martin

Publication type:

Article