共 50 条
- [21] QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt diseaseScientific Reports, 14Melita Kaltak论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D DepartmentPetra de Bruijn论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D DepartmentWillemijn van Leeuwen论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D DepartmentGerard Platenburg论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D DepartmentFrans P. M. Cremers论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D DepartmentRob W. J. Collin论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D DepartmentJim Swildens论文数: 0 引用数: 0 h-index: 0机构: ProQR Therapeutics,R&D Department
- [22] Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical dataHUMAN MOLECULAR GENETICS, 2024, 33 (16) : 1379 - 1390Burnight, Erin R.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USAFenner, Beau J.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USAHan, Ian C.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USADeluca, Adam P.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USAWhitmore, S. Scott论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USABohrer, Laura R.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USAAndorf, Jeaneen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USASohn, Elliott H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USAMullins, Robert F.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USATucker, Budd A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USAStone, Edwin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, 375 Newton Rd, Iowa City, IA 52242 USA
- [23] ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel VariantsFRONTIERS IN GENETICS, 2019, 10Hu, Fang-Yuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaLi, Jian-kang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China City Univ Hong Kong, Dept Comp Sci, Kowloon, Hong Kong, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaGao, Feng-Juan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaQi, Yu-He论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaXu, Ping论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaZhang, Yong-Jin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaWang, Dan-Dan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaWang, Lu-Sheng论文数: 0 引用数: 0 h-index: 0机构: City Univ Hong Kong, Dept Comp Sci, Kowloon, Hong Kong, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaWang, Min论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaChen, Fang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Univ Copenhagen, Dept Biol, Lab Genom & Mol Biomed, Copenhagen, Denmark BGI Shenzhen, Shenzhen Engn Lab Birth Defects Screening, Shenzhen, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaShen, Si-Mai论文数: 0 引用数: 0 h-index: 0机构: Univ Sichuan, Chengdu, Sichuan, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaXu, Ge-Zhi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaZhang, Sheng-Hai论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaChang, Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaWu, Ji-Hong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, Shanghai Med Coll, Collaborat Innovat Ctr Brain Sci, Shanghai, Peoples R China Sci & Technol Commiss Shanghai Municipal, Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Chinese Acad Med Sci, Natl Hlth Commiss, Key Lab Myopia, Shanghai, Peoples R China Fudan Univ, Coll Med, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China
- [24] Rescuing ABCA4 trafficking mutants as a treatment for Stargardt diseaseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)Cebotaru, Liudmila论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USALopes-Pacheco, Miqueias论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USASabirzhanova, Inna论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USARapino, Daniele论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USAGrover, Rahul论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USAHanda, James T.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Ophthalmol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USAGuggino, William论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Physiol, Baltimore, MD USA Johns Hopkins Univ, Med & Physiol, Baltimore, MD USA
- [25] Gene Therapy for Stargardt Disease Associated with ABCA4 GeneRETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY, 2014, 801 : 719 - 724Han, Zongchao论文数: 0 引用数: 0 h-index: 0机构: Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USAConley, Shannon M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USANaash, Muna I.论文数: 0 引用数: 0 h-index: 0机构: Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA
- [26] The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt DiseaseDIAGNOSTICS, 2024, 14 (14)De Bruyn, Hanna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAJohnson, Megan论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Ophthalmol Visual & Anat Sci, Detroit, MI 48201 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAMoretti, Madelyn论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Ophthalmol Visual & Anat Sci, Detroit, MI 48201 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAAhmed, Saleh论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Ophthalmol Visual & Anat Sci, Detroit, MI 48201 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAMujat, Mircea论文数: 0 引用数: 0 h-index: 0机构: Phys Sci Inc, 20 New England Business Ctr, Andover, MA 01810 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAAkula, James D.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAGlavan, Tomislav论文数: 0 引用数: 0 h-index: 0机构: Univ Rijeka, Fac Med, Dept Mol Med & Biotechnol, Rijeka 51000, Croatia Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAMihalek, Ivana论文数: 0 引用数: 0 h-index: 0机构: Univ Rijeka, Fac Med, Dept Mol Med & Biotechnol, Rijeka 51000, Croatia Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAAslaksen, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z4, Canada Univ Bergen, Dept Clin Sci, N-5007 Bergen, Norway Haukeland Hosp, Dept Med Genet, N-5009 Bergen, Norway Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAMolday, Laurie L.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z4, Canada Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAMolday, Robert S.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z4, Canada Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USABerkowitz, Bruce A.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Ophthalmol Visual & Anat Sci, Detroit, MI 48201 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USAFulton, Anne B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USA
- [27] Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt diseaseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)Albert, Silvia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsSangermano, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsGaranto, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Fakin, Ana论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, England Moorfields Eye Hosp, London, England Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsVan den Born, Ingeborgh论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, London, England Moorfields Eye Hosp, London, England Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Stoehr, Heidi论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsWeber, Bernhard H. F.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsHoyng, Carel C. B.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, NetherlandsCremers, Frans P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands
- [28] ABCA4 variant screening in a Turkish cohort with Stargardt diseaseOPHTHALMIC GENETICS, 2024, 45 (02) : 133 - 139Sinim Kahraman, Neslihan论文数: 0 引用数: 0 h-index: 0机构: Acibadem Hosp, Dept Ophthalmol, Istanbul, Turkiye Acibadem Hosp, Dept Ophthalmol, Istanbul, TurkiyeOzguc caliskan, Buesra论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Dept Med Genet, Med Fac, Kayseri, Turkiye Acibadem Hosp, Dept Ophthalmol, Istanbul, TurkiyeKandemir, Nefise论文数: 0 引用数: 0 h-index: 0机构: Kayseri Educ & Res Hosp, Dept Med Genet, Kayseri, Turkiye Acibadem Hosp, Dept Ophthalmol, Istanbul, TurkiyeOner, Ayse论文数: 0 引用数: 0 h-index: 0机构: Acibadem Hosp, Dept Ophthalmol, Istanbul, Turkiye Acibadem Hosp, Dept Ophthalmol, Istanbul, TurkiyeDundar, Munis论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Dept Med Genet, Med Fac, Kayseri, Turkiye Acibadem Hosp, Dept Ophthalmol, Istanbul, TurkiyeOzkul, Yusuf论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Dept Med Genet, Med Fac, Kayseri, Turkiye Acibadem Hosp, Dept Ophthalmol, Istanbul, Turkiye
- [29] Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular DegenerationINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (01) : 1 - 22Garces, Fabian A.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z3, CanadaScortecci, Jessica F.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z3, CanadaMolday, Robert S.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Dept Ophthalmol & Visual Sci, Vancouver, BC V5Z 3N9, Canada Univ British Columbia, Dept Biochem & Mol Biol, Vancouver, BC V6T 1Z3, Canada
- [30] Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosaINTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2008, 21 (06) : 715 - 720Shastry, Barkur S.论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Dept Biol Sci, Rochester, MI 48309 USA Oakland Univ, Dept Biol Sci, Rochester, MI 48309 USA