J. Thevenon


AuthID: R-00G-NXD

Publications Awaiting Confirmation

1
TITLE: HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond  Full Text
AUTHORS: Carla Marini; Alessandro Porro; Agnes Rastetter; Carine Dalle; Ilaria Rivolta; Daniel Bauer; Renske Oegema; Caroline Nava; Elena Parrini; Davide Mei; Catherine Mercer; Radhika Dhamija; Chelsea Chambers; Christine Coubes; Julien Thevenon; Paul Kuentz; Sophie Julia; Laurent Pasquier; Christele Dubourg; Wilfrid Carre; Anna Rosati; Federico Melani; Tiziana Pisano; Maria Giardino; Micheil M Innes; Yves Alembik; Sophie Scheidecker; Manuela Santos; Sonia Figueiroa; Cristina Garrido; Carlo Fusco; Daniele Frattini; Carlotta Spagnoli; Anna Binda; Tiziana Granata; Francesca Ragona; Elena Freri; Silvana Franceschetti; Laura Canafoglia; Barbara Castellotti; Cinzia Gellera; Raffaella Milanesi; Maria Margherita Mancardi; Damien R Clark; Fernando Kok; Katherine L Helbig; Shoji Ichikawa; Laurie Sadler; Jana Neupauerova; Petra Lassuthova; Katalin Sterbova; Annick Laridon; Eva Brilstra; Bobby Koeleman; Johannes R Lemke; Federico Zara; Pasquale Striano; Julie Soblet; Guillaume Smits; Nicolas Deconinck; Andrea Barbuti; Dario DiFrancesco; Eric LeGuern; Renzo Guerrini; Bina Santoro; Kay Hamacher; Gerhard Thiel; Anna Moroni; Jacopo C DiFrancesco; Christel Depienne; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 11
INDEXED IN: Scopus WOS
2
TITLE: Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ReCQL4 mutations in 39 patients   Full Text
AUTHORS: Piard, J; Aral, B; Vabres, P; Holder Espinasse, M; Megarbane, A; Gauthier, S; Capra, V; Pierquin, G; Callier, P; Baumann, C; Pasquier, L; Baujat, G; Martorell, L; Rodriguez, A; Brady, AF; Boralevi, F; Gonzalez Ensenat, MA; Rio, M; Bodemer, C; Philip, N; P Cordier; Goldenberg, A; Demeer, B; Wright, M; Blair, E; Puzenat, E; Parent, P; Sznajer, Y; Francannet, C; DiDonato, N; Boute, O; Barlogis, V; Moldovan, O; Bessis, D; Coubes, C; Tardieu, M; Cormier Daire, V; Sousa, AB; Franques, J; Toutain, A; Tajir, M; Elalaoui, SC; Genevieve, D; Thevenon, J; B Courcet; B Riviere; Collet, C; Gigot, N; Faivre, L; Thauvin Robinet, C; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef

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