Résultats de la recherche
(1 - 2 of 2)
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
- Pas de texte intégral
- Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne H, Helbig K, Tang S, Willing M, Tinkle B, Adams D, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom T, Mefford H, Myers C, Muir A, LaCroix A, Sadleir L, Scheffer I, Brilstra E, van Haelst M, van der Smagt J, Bok L, Moller R, Jensen U, Millichap J, Berg A, Goldberg E, De Bie I, Fox S, Major P, Jones J, Zackai E, Abou Jamra R, Rolfs A, Leventer R, Lawson J, Roscioli T, Jansen F, Ranza E, Korff C, Lehesjoki A, Courage C, Linnankivi T, Smith D, Stanley C, Mintz M, McKnight D, Decker A, Tan W, Tarnopolsky M, Brady L, Wolff M, Dondit L, Pedro H, Parisotto S, Jones K, Patel A, Franz D, Vanzo R, Marco E, Ranells J, Di Donato N, Dobyns W, Laube B, Traynelis S, Lemke J
- Articles Scientifiques
- 2017
- J Med Genet
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
- Pas de texte intégral
- Crow Y, Chase D, Lowenstein Schmidt J, Szynkiewicz M, Forte G, Gornall H, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid M, Abdel-Salam G, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam E, Bahi-Buisson N, Bailey K, Barnerias C, Barth M, Battini R, Beresford M, Bernard G, Bianchi M, Billette de Villemeur T, Blair E, Bloom M, Burlina A, Carpanelli M, Carvalho D, Castro-Gago M, Cavallini A, Cereda C, Chandler K, Chitayat D, Collins A, Sierra Corcoles C, Cordeiro N, Crichiutti G, Dabydeen L, Dale R, D'Arrigo S, De Goede C, De Laet C, De Waele L, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey M, Fazzi E, Ferrie C, Figueiredo A, Gener B, Goizet C, Gowrinathan N, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King M, Kirk E, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel Vincent, La Piana R, Lim M, Lin J, Linnankivi T, Mackay M, Marom D, Marques Lourenco C, McKee S, Moroni I, Morton J, Moutard M, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades P, Olivieri I, Ostergaard J, Perez-Duenas B, Prendiville J, Ramesh V, Rasmussen M, Regal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers K, Sinha G, Soler D, Spiegel R, Stodberg T, Straussberg R, Swoboda K, Suri M, Tacke U, Tan T, te Water Naude J, Wee Teik K, Thomas M, Till M, Tonduti D, Valente E, Van Coster R, van der Knaap M, Vassallo G, Vijzelaar R, Vogt J, Wallace G, Wassmer E, Webb H, Whitehouse W, Whitney R, Zaki M, Zuberi S, Livingston J, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice G
- Articles Scientifiques
- 2015
- American Journal of Medical Genetics Part A
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Laboratoire de Génétique Médicale - LGM - UMRS1112