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- [21] Natural history study of RPE65 associated autosomal recessive retinal dystrophies.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)Pierrache, Laurence论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Erasmus MC, Ophthalmol, Rotterdam, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsYzer, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Rotterdam Eye Hosp, Rotterdam, Netherlandsvan Genderen, Maria M.论文数: 0 引用数: 0 h-index: 0机构: Bartimeus, Zeist, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsSchuil, Jose论文数: 0 引用数: 0 h-index: 0机构: Bartimeus, Zeist, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsBoonstra, Nienke论文数: 0 引用数: 0 h-index: 0机构: Bartimeus, Zeist, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsPott, Jan-Willem R.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Ophthalmol, Groningen, Netherlands Rotterdam Eye Hosp, Rotterdam, Netherlandsvan Schooneveld, Mary J.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Ophthalmol, Amsterdam, Netherlands Acad Med Ctr, Clin Genet, Amsterdam, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsCremers, Frans P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsKlaver, Caroline C. W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Ophthalmol, Rotterdam, Netherlands Erasmus MC, Epidemiol, Rotterdam, Netherlands Rotterdam Eye Hosp, Rotterdam, NetherlandsVan den Born, Ingeborgh论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Rotterdam Eye Hosp, Rotterdam, Netherlands
- [22] The phenotypes of patients and heterozygous carriers with RDH12 mutations are different from those with RPE65 mutationsINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46Yzer, S论文数: 0 引用数: 0 h-index: 0Lopez, I论文数: 0 引用数: 0 h-index: 0Fishman, GA论文数: 0 引用数: 0 h-index: 0Racine, J论文数: 0 引用数: 0 h-index: 0Dorfman, A论文数: 0 引用数: 0 h-index: 0Lachapelle, P论文数: 0 引用数: 0 h-index: 0Janecke, AR论文数: 0 引用数: 0 h-index: 0Cremers, FPM论文数: 0 引用数: 0 h-index: 0Allikmets, R论文数: 0 引用数: 0 h-index: 0Koenekoop, RK论文数: 0 引用数: 0 h-index: 0
- [23] A Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis Associated With Cone Rod DystrophyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)Abouzeid, H.论文数: 0 引用数: 0 h-index: 0机构: Jules Gonin Eye Hosp, Ophthalmol, Lausanne, Switzerland IRO, Sion, Switzerland Jules Gonin Eye Hosp, Ophthalmol, Lausanne, SwitzerlandOthman, I. S.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Ophthalmol, Cairo, Egypt Minist Hlth Cairo, Natl Eye Ctr, Rod El Farag, Cairo, Egypt Jules Gonin Eye Hosp, Ophthalmol, Lausanne, SwitzerlandSabry, S.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Ophthalmol, Cairo, Egypt Minist Hlth Cairo, Natl Eye Ctr, Rod El Farag, Cairo, Egypt Jules Gonin Eye Hosp, Ophthalmol, Lausanne, SwitzerlandFavre, I.论文数: 0 引用数: 0 h-index: 0机构: IRO, Sion, Switzerland Jules Gonin Eye Hosp, Ophthalmol, Lausanne, SwitzerlandHerkenne, C.论文数: 0 引用数: 0 h-index: 0机构: IRO, Sion, Switzerland Jules Gonin Eye Hosp, Ophthalmol, Lausanne, SwitzerlandSchorderet, D. F.论文数: 0 引用数: 0 h-index: 0机构: IRO, Sion, Switzerland Ecole Polytech Fed Lausanne, Lausanne, Switzerland Jules Gonin Eye Hosp, Ophthalmol, Lausanne, SwitzerlandMunier, F. L.论文数: 0 引用数: 0 h-index: 0机构: Jules Gonin Eye Hosp, Ophthalmol, Lausanne, Switzerland IRO, Sion, Switzerland Jules Gonin Eye Hosp, Ophthalmol, Lausanne, Switzerland
- [24] Successful Gene Therapy in Older Rpe65-Deficient Dogs Following Subretinal Injection of an Adeno-Associated Vector Expressing RPE65HUMAN GENE THERAPY, 2013, 24 (10) : 883 - 893Annear, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USA Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USAMowat, Freya M.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USA UCL, Inst Ophthalmol, Dept Genet, London EC1V 9EL, England Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USABartoe, Joshua T.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USA Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USAQuerubin, Janice论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USA Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USAAzam, Selina A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Dept Genet, London EC1V 9EL, England Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USABasche, Mark论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Dept Genet, London EC1V 9EL, England Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USACurran, Paul G.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Ctr Stat Consulting, E Lansing, MI 48824 USA Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USASmith, Alexander J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Dept Genet, London EC1V 9EL, England Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USABainbridge, James W. B.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Dept Genet, London EC1V 9EL, England Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USAAli, Robin R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Dept Genet, London EC1V 9EL, England Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USAPetersen-Jones, Simon M.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USA Michigan State Univ, Dept Small Anim Clin Sci, E Lansing, MI 48824 USA
- [25] Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variantsMOLECULAR VISION, 2018, 24 : 286 - 296Katagiri, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan论文数: 引用数: h-index:机构:Hayashi, Takaaki论文数: 0 引用数: 0 h-index: 0机构: Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan Jikei Univ, Sch Med, Katsushika Med Ctr, Dept Ophthalmol,Katsushika Ku, 6-41-2 Aoto, Tokyo 1258506, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanKurata, Kentaro论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Ophthalmol, Hamamatsu, Shizuoka, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanMizobuchi, Kei论文数: 0 引用数: 0 h-index: 0机构: Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanMatsuura, Tomokazu论文数: 0 引用数: 0 h-index: 0机构: Jikei Univ, Sch Med, Dept Lab Med, Tokyo, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanYoshitake, Kazutoshi论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Tokyo, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanIwata, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Tokyo, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanNakano, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, JapanHotta, Yoshihiro论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Ophthalmol, Hamamatsu, Shizuoka, Japan Jikei Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan
- [26] Low temperature-dependent functional rescue of RPE65 mutants associated with retinal degenerationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)Jin, Minghao论文数: 0 引用数: 0 h-index: 0机构: LSU Sch Med, Dept Ophthalmol, New Orleans, LA USA LSU Sch Med, Ctr Neurosci, New Orleans, LA USA LSU Sch Med, Dept Ophthalmol, New Orleans, LA USALi, Songhua论文数: 0 引用数: 0 h-index: 0机构: LSU Sch Med, Dept Ophthalmol, New Orleans, LA USA LSU Sch Med, Ctr Neurosci, New Orleans, LA USA LSU Sch Med, Dept Ophthalmol, New Orleans, LA USAHu, Jane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90024 USA LSU Sch Med, Dept Ophthalmol, New Orleans, LA USAJin, Robin J.论文数: 0 引用数: 0 h-index: 0机构: SUNY Buffalo, Buffalo, NY 14260 USA LSU Sch Med, Dept Ophthalmol, New Orleans, LA USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Philadelphia, PA 19104 USA LSU Sch Med, Dept Ophthalmol, New Orleans, LA USABok, Dean论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90024 USA LSU Sch Med, Dept Ophthalmol, New Orleans, LA USA
- [27] RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patientsEXPERIMENTAL EYE RESEARCH, 2021, 212Lopez-Rodriguez, Rosario论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainLantero, Esther论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainBlanco-Kelly, Fiona论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainAvila-Fernandez, Almudena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainMartin Merida, Inmaculada论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainDel Pozo-Valero, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainPerea-Romero, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainZurita, Olga论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainJimenez-Rolando, Belen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainTahsin Swafiri, Saoud论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainRiveiro-Alvarez, Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainJose Trujillo-Tiebas, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainCarreno Salas, Ester论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainGarcia-Sandoval, Blanca论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainCorton, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom,UAM, Madrid, Spain
- [28] RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 129 - 130Lopez-Rodriguez, Rosario论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainLantero, Esther论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainBlanco-Kelly, Fiona论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainAvila-Fernandez, Almudena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainMartin Merida, Inmaculada论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spaindel Pozo-Valero, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainPerea-Romero, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainZurita, Olga论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainJimenez-Rolando, Belen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainTahsin Swafiri, Saoud论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainRiveiro-Alvarez, Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainJose Trujillo-Tiebas, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainCarreno Salas, Ester论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainGarcia-Sandoval, Blanca论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainCorton, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain
- [29] Rod or cone vision in young patients with early onset retinal degeneration associated with the RPE65 genotype?INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U105 - U105Wegscheider, E论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Paediat Ophthalmol, Klinikum, D-8400 Regensburg, GermanyWabbels, B论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Paediat Ophthalmol, Klinikum, D-8400 Regensburg, GermanySchillinger, R论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Paediat Ophthalmol, Klinikum, D-8400 Regensburg, GermanyPreising, M论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Paediat Ophthalmol, Klinikum, D-8400 Regensburg, GermanyHamel, C论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Paediat Ophthalmol, Klinikum, D-8400 Regensburg, GermanyLorenz, B论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Paediat Ophthalmol, Klinikum, D-8400 Regensburg, Germany
- [30] Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital AmaurosisJOURNAL OF BIOCHEMISTRY, 2015, 158 (02): : 115 - 125Li, Songhua论文数: 0 引用数: 0 h-index: 0机构: LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USA LSU Hlth Sci Ctr, Neurosci Ctr, New Orleans, LA 70112 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USAHu, Jane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Neurobiol, Los Angeles, CA 90095 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USAJin, Robin J.论文数: 0 引用数: 0 h-index: 0机构: SUNY Buffalo, Buffalo, NY 14214 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USAAiyar, Ashok论文数: 0 引用数: 0 h-index: 0机构: LSU Hlth Sci Ctr, Dept Microbiol Immunol & Parasitol, New Orleans, LA 70112 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Philadelphia, PA 19104 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USABok, Dean论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Neurobiol, Los Angeles, CA 90095 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USAJint, Minghao论文数: 0 引用数: 0 h-index: 0机构: LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USA LSU Hlth Sci Ctr, Neurosci Ctr, New Orleans, LA 70112 USA LSU Hlth Sci Ctr, Dept Ophthalmol, New Orleans, LA 70112 USA