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Epilepsy panel testing criteria: A clinical assessment.
Published in:
Journal of Genetic Counseling, 2024, v. 33, n. 2, p. 352, doi. 10.1002/jgc4.1732
By:
- Fazenbaker, Andrew C.;
- Munro, Christine D.;
- Carlson, Jenna C.;
- Durst, Andrea L.;
- Vento, Jodie M.
Publication type:
Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
By:
- Vanderver, Adeline;
- Tonduti, Davide;
- Kahn, Ilana;
- Schmidt, Johanna;
- Medne, Livija;
- Vento, Jodie;
- Chapman, Kimberly A.;
- Lanpher, Brendan;
- Pearl, Phillip;
- Gropman, Andrea;
- Lourenco, Charles;
- Bamforth, John‐Steven;
- Sharpe, Cynthia;
- Pineda, Mercédes;
- Schallner, Jens;
- Bodamer, Olaf;
- Orcesi, Simona;
- Oberstein, Saskia A. J. Lesnik;
- Sistermans, Erik A.;
- Yntema, Helger G.
Publication type:
Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Published in:
Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
By:
- Vandewalle, Joke;
- Bauters, Marijke;
- Van Esch, Hilde;
- Belet, Stefanie;
- Verbeeck, Jelle;
- Fieremans, Nathalie;
- Holvoet, Maureen;
- Vento, Jodie;
- Spreiz, Ana;
- Kotzot, Dieter;
- Haberlandt, Edda;
- Rosenfeld, Jill;
- Andrieux, Joris;
- Delobel, Bruno;
- Dehouck, Marie-Bertille;
- Devriendt, Koen;
- Fryns, Jean-Pierre;
- Marynen, Peter;
- Goldstein, Amy;
- Froyen, Guy
Publication type:
Article
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome.
Published in:
Clinical & Developmental Immunology, 2012, p. 1, doi. 10.1155/2012/206730
By:
- Schmidt, Johanna L.;
- Olivieri, Ivana;
- Vento, Jodie M.;
- Fazzi, Elisa;
- Gordish-Dressman, Heather;
- Orcesi, Simona;
- Vanderver, Adeline
Publication type:
Article

Found: 4

Epilepsy panel testing criteria: A clinical assessment.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome.