Results 121 to 130 of about 414 (179)
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases. [PDF]
Orphanet J Rare Dis, 2017 Baujat G, Choquet R, Bouée S, Jeanbat V, Courouve L, Ruel A, Michot C, Le Quan Sang KH, Lapidus D, Messiaen C, Landais P, Cormier-Daire V. +11 moreeuropepmc +1 more sourceMutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. [PDF]
Am J Hum Genet, 2016 Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J. +16 moreeuropepmc +1 more sourceA targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. [PDF]
J Med Genet, 2016 Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. +54 moreeuropepmc +1 more sourceIdentification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterization of chromatinopathies.
Santini A, Tognon A, Richard A, Velasco G, Phan G, Marzin P, Maury F, May A, Michot C, Chirita-Emandi A, Saraiva J, Martinez MJB, Lyonnet S, Sansović I, Barakat TS, Brunelle P, Ghoumid J, Guillou XL, Tanno PL, Willems M, Zenker M, Schanze I, Moortgat S, Isidor B, Rollier P, Guerrot A, Chatron N, Demurger F, Goldenberg A, Delanne J, Faivre L, Nicolas G, Lecoquierre F, Coussement A, Herenger Y, Defrance M, Cormier-Daire V, Charbonnier C, de Dieuleveult M. +38 moreeuropepmc +1 more source
