Results 211 to 220 of about 62,782 (280)
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. [PDF]
Nat GenetQuinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leibu R, Leroy BP, Liskova P, Lopez I, López-Rodríguez VRJ, Mahieu Q, Mahroo OA, Manes G, Mansard L, Martín-Gutiérrez MP, Martins N, Mauring L, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Ołdak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Ramond F, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Ederra J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stefansson K, Stingl K, Suga A, Sulem P, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Thiadens AAHJ, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, Valleix S, van Aerschot J, van den Born LI, Van Heetvelde M, Verhoeven VJM, Vincent AL, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Lin S, Cremers FPM, Lee W, Ellingford JM, Stanek D, Roosing S, Rivolta C. +187 moreeuropepmc +1 more sourceRPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa. [PDF]
Invest Ophthalmol Vis SciRen M, Chen X, Gao P, Huang Y, Yu S, Reilly J, Sun K, Han Y, Hu H, Li P, Luo J, Dai L, Zhu Y, Lu Q, Shu X, Wang S, Ren X, Tang Z, Liu M. +18 moreeuropepmc +1 more source
