Résultats de la recherche

(1 - 2 of 2)

Exporter

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy: Pas de texte intégral; Bohm Johann, Biancalana Valérie, Dechene E, Bitoun M, Pierson C, Schaefer E, Karasoy H, Dempsey M, Klein F, Dondaine N, Kretz Christine, Haumesser Nicolas, Poirson C, Toussaint A, Greenleaf R, Barger M, Mahoney L, Kang P, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira A, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea J, Michel F, Furby A, Llona J, Van Coster R, Bertini E, Urtizberea J, Drouin-Garraud V, Beroud C, Prudhon B, Bedford M, Mathews K, Erby L, Smith S, Roggenbuck J, Crowe C, Brennan Spitale A, Johal S, Amato A, Demmer L, Jonas J, Darras B, Bird T, Laurino M, Welt S, Trotter C, Guicheney P, Das S, Mandel Jean-Louis, Beggs A, Laporte Jocelyn; Articles Scientifiques; 2012; Human Mutation; Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

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; Laboratoire de Génétique Médicale - LGM - UMRS1112