Résultats de la recherche
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Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia
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Pas de texte intégral
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Crow Y, Zaki M, Abdel-Hamid M, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro N, Gleeson J, Gowrinathan N, Laugel Vincent, Renaldo F, Rodriguez D, Livingston J, Rice G
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Articles Scientifiques
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2014
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Neuropediatrics
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Laboratoire de Génétique Médicale - LGM - UMRS1112
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
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Pas de texte intégral
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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
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Articles Scientifiques
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2015
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American Journal of Medical Genetics Part A
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Laboratoire de Génétique Médicale - LGM - UMRS1112
