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Showing 1–5 of 5 results
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Research |
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
- Berge A. Minassian
- , Jeffrey R. Lee
- , Jo-Anne Herbrick
- , Jack Huizenga
- , Sylvia Soder
- , Andrew J. Mungall
- , Ian Dunham
- , Rebecca Gardner
- , Chung-yan G. Fong
- , Stirling Carpenter
- , Laura Jardim
- , P. Satishchandra
- , Eva Andermann
- , O. Carter Snead III
- , Iscia Lopes-Cendes
- , Lap-Chee Tsui
- , Antonio V. Delgado-Escueta
- , Guy A. Rouleau
- & Stephen W. Scherer
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Research |
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Reviews |
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
- Julia N. Bailey
- , Christopher Patterson
- , Laurence de Nijs
- , Reyna M. Durón
- , Viet-Huong Nguyen
- , Miyabi Tanaka
- , Marco T. Medina
- , Aurelio Jara-Prado
- , Iris E. Martínez-Juárez
- , Adriana Ochoa
- , Yolli Molina
- , Toshimitsu Suzuki
- , María E. Alonso
- , Jenny E. Wight
- , Yu-Chen Lin
- , Laura Guilhoto
- , Elza Marcia Targas Yacubian
- , Jesús Machado-Salas
- , Andrea Daga
- , Kazuhiro Yamakawa
- , Thierry M. Grisar
- , Bernard Lakaye
- & Antonio V. Delgado-Escueta
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Research |
Mutations in EFHC1 cause juvenile myoclonic epilepsy
- Toshimitsu Suzuki
- , Antonio V Delgado-Escueta
- , Kripamoy Aguan
- , Maria E Alonso
- , Jun Shi
- , Yuji Hara
- , Motohiro Nishida
- , Tomohiro Numata
- , Marco T Medina
- , Tamaki Takeuchi
- , Ryoji Morita
- , Dongsheng Bai
- , Subramaniam Ganesh
- , Yoshihisa Sugimoto
- , Johji Inazawa
- , Julia N Bailey
- , Adriana Ochoa
- , Aurelio Jara-Prado
- , Astrid Rasmussen
- , Jaime Ramos-Peek
- , Sergio Cordova
- , Francisco Rubio-Donnadieu
- , Yushi Inoue
- , Makiko Osawa
- , Sunao Kaneko
- , Hirokazu Oguni
- , Yasuo Mori
- & Kazuhiro Yamakawa
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Research |
