Works matching IS 16618769 AND DT 2016 AND VI 7 AND IP 3

Results: 8

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 160, doi. 10.1159/000446619

By:

Salas-Alanís, Julio C.;
Scott, Claire A.;
Fajardo-Ramírez, Oscar R.;
Duran, Carola;
Moreno-Treviño, María G.;
Kelsell, David P.

Publication type:

Article

Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 153, doi. 10.1159/000446203

By:

Giltay, Jacques C.;
Klijn, Aart J.;
de Jong, Tom P. V. M.;
Kats, Peter;
van Breugel, Marjolijn;
Lens, Susan;
Vromans, Martijn;
van der Veken, Lars T.;
Hochstenbach, Ron

Publication type:

Article

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 144, doi. 10.1159/000446884

By:

Spiegler, Stefanie;
Kirchmaier, Bettina;
Rath, Matthias;
Korenke, G. Christoph;
Tetzlaff, Fabian;
van de Vorst, Maartje;
Neveling, Kornelia;
Acker-Palmer, Amparo;
Kuss, Andreas W.;
Gilissen, Christian;
Fischer, Andreas;
Schulte-Merker, Stefan;
Felbor, Ute

Publication type:

Article

A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 138, doi. 10.1159/000447077

By:

Heithaus, Jennifer L.;
Twyman, Kimberly A.;
Batanian, Jacqueline R.

Publication type:

Article

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 122, doi. 10.1159/000446586

By:

Niyazov, Dmitriy M.;
Kahler, Stephan G.;
Frye, Richard E.

Publication type:

Article

Silver-Russell Syndrome and Beckwith- Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 110, doi. 10.1159/000447413

By:

Õunap, Katrin

Publication type:

Article

Arthrogryposis as a Syndrome: Gene Ontology Analysis.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 101, doi. 10.1159/000446617

By:

Hall, Judith G.;
Kiefer, Jeff

Publication type:

Article

Disconnecting CNTNAP2.

Published in:

Molecular Syndromology, 2016, v. 7, n. 3, p. 99, doi. 10.1159/000447002

By:

Poot, Martin

Publication type:

Article