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

Results: 7

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
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
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
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
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
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

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

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

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

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

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

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

Discovering Patterns of Structural Variation by Mining Molecular Fossils.

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