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- [1] Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken SyndromeARCHIVES OF OPHTHALMOLOGY, 2011, 129 (01) : 81 - 87Stone, Edwin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Howard Hughes Med Inst, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USACideciyan, Artur V.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAAleman, Tomas S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAScheetz, Todd E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USASumaroka, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAEhlinger, Mary A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Howard Hughes Med Inst, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USASchwartz, Sharon B.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAFishman, Gerald A.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Dept Ophthalmol & Visual Sci, Chicago, IL USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USATraboulsi, Elias I.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Dept Pediat Ophthalmol & Strabismus, Cole Eye Inst, Cleveland, OH 44195 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USALam, Byron L.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Bascom Palmer Eye Inst, Miami, FL 33136 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAFulton, Anne B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAMullins, Robert F.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USASheffield, Val C.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Howard Hughes Med Inst, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA 52242 USA
- [2] Nphp5 Mutations in Patients With Leber Congenital AmaurosisINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)Cuzcano, A. Estrada论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsKoenekoop, R. K.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, McGill Ocular Genet Ctr, Montreal, PQ, Canada Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsKohl, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Ophthalm Res, Ophthalmol, Tubingen, Germany Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsRohrschneider, K.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Dept Ophthalmol, Heidelberg, Germany Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsMaumenee, I. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Eye & Ear Infirm, Ophthalmol, Chicago, IL 60612 USA Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsJacobson, S. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Ophthalmol, Philadelphia, PA 19104 USA Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsHoyng, C. B.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsZrenner, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ophthalmol, Tubingen, Germany Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, NetherlandsCremers, F. P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, Netherlandsden Hollander, A. I.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Human Genet, Ophthalmol, Nijmegen, Netherlands
- [3] Photoreceptor development, degeneration and retinal gene expression in the canine NPHP5 Leber congenital amaurosis modelINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)Aguirre, Gustavo D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USADowns, Louise M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USAGenini, Sem论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USAScott, Erin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USAIwabe, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USABeltran, William A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA
- [4] Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutationHUMAN MOLECULAR GENETICS, 2016, 25 (19) : 4211 - 4226Downs, Louise M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAScott, Erin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Texas A&M Univ, Coll Vet Med & Biomed Sci, College Stn, TX 77845 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USACideciyan, Artur V.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAIwabe, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USADufour, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAGardiner, Kristin L.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAGenini, Sem论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAMarinho, Luis Felipe论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USASumaroka, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAKosyk, Mychajlo S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USASwider, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAAguirre, Geoffrey K.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USABeltran, William A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USAAguirre, Gustavo D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sect Ophthalmol, Dept Clin Studies, Philadelphia, PA 19104 USA
- [5] LCA5, a Rare Genetic Cause of Leber Congenital Amaurosis in KoreansOPHTHALMIC GENETICS, 2009, 30 (01) : 54 - 55Seong, Moon-Woo论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Dept Lab Med, Goyang, South Korea Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South KoreaKim, Seong Yeon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South Korea Clin Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South KoreaYu, Young Suk论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Dept Ophthalmol, Seoul 110744, South Korea Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South KoreaHwang, Jeong-Min论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Bundang Hosp, Dept Ophthalmol, Songnam, South Korea Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South KoreaKim, Ji Yeon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South Korea Clin Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South KoreaPark, Sung Sup论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South Korea Clin Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South Korea
- [6] Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotypeMOLECULAR VISION, 2018, 24 : 834 - 846Hanke-Gogokhia, Christin论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USA Weill Cornell Med Coll, Dyson Vis Res Inst, 1300 York Ave, New York, NY 10065 USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USAChiodo, Vince A.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Dept Ophthalmol, Gainesville, FL USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USAHauswirth, William W.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Dept Ophthalmol, Gainesville, FL USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USAFrederick, Jeanne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USABaehr, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USA Univ Utah, Dept Neurobiol & Anat, Hlth Sci Ctr, Salt Lake City, UT 84132 USA Univ Utah, Dept Biol, Salt Lake City, UT 84132 USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, John A Moran Eye Ctr, Salt Lake City, UT 84132 USA
- [7] AAV-mediated gene augmentation restores retinal function and vision in the canine model of NPHP5 Leber congenital amaurosisINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)Aguirre, Gustavo D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USACideciyan, Artur V.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Scheie Eye Inst, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USABoye, Sanford L.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Ophthalmol, Gainesville, FL USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USAIwabe, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USADufour, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USAMarinho, Felipe Pompeo论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USADowns, Louise M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USAHauswirth, William论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Ophthalmol, Gainesville, FL USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Scheie Eye Inst, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USABeltran, William A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Ophthalmol, Philadelphia, PA 19104 USA
- [8] Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisNature Genetics, 2007, 39 : 889 - 895Anneke I den Hollander论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsRobert K Koenekoop论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsMoin D Mohamed论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsHeleen H Arts论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsKarsten Boldt论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsKatherine V Towns论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsTina Sedmak论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsMonika Beer论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsKerstin Nagel-Wolfrum论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsMartin McKibbin论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsSharola Dharmaraj论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsIrma Lopez论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsLenka Ivings论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsGrange A Williams论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsKelly Springell论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsC Geoff Woods论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsHussain Jafri论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsYasmin Rashid论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsTim M Strom论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsBert van der Zwaag论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsIlse Gosens论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsFerry F J Kersten论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsErwin van Wijk论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsJoris A Veltman论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsMarijke N Zonneveld论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsSylvia E C van Beersum论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsIrene H Maumenee论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsUwe Wolfrum论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsMichael E Cheetham论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsMarius Ueffing论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsFrans P M Cremers论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsChris F Inglehearn论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human GeneticsRonald Roepman论文数: 0 引用数: 0 h-index: 0机构: Nijmegen Centre for Molecular Life Sciences,Department of Human Genetics
- [9] Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisNATURE GENETICS, 2007, 39 (07) : 889 - 895den Hollander, Anneke I.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsKoenekoop, Robert K.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsMohamed, Moin D.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsArts, Heleen H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsBoldt, Karsten论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsTowns, Katherine V.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsSedmak, Tina论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsBeer, Monika论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsNagel-Wolfrum, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsMcKibbin, Martin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsDharmaraj, Sharola论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsLopez, Irma论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsIvings, Lenka论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsWilliams, Grange A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsSpringell, Kelly论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsWoods, C. Geoff论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsJafri, Hussain论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsRashid, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlandsvan der Zwaag, Bert论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsGosens, Ilse论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsKersten, Ferry F. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlandsvan Wijk, Erwin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsZonneveld, Marijke N.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlandsvan Beersum, Sylvia E. C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsMaumenee, Irene H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsWolfrum, Uwe论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsCheetham, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsUeffing, Marius论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsInglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, NetherlandsRoepman, Ronald论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands
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