共 50 条
- [31] Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment OutcomeINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (04) : 2664 - 2676Gliem, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyMueller, Philipp L.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyMangold, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyHolz, Frank G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyBolz, Hanno J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet, Ingelheim, Germany Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyStoehr, Heidi论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Inst Human Genet, D-93053 Regensburg, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyWeber, Bernhard H. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Inst Human Genet, D-93053 Regensburg, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, GermanyIssa, Peter Charbel论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany
- [32] PATTERN DYSTROPHY WITH HIGH INTRAFAMILIAL VARIABILITY ASSOCIATED WITH Y141C MUTATION IN THE PERIPHERIN/RDS GENE AND SUCCESSFUL TREATMENT OF SUBFOVEAL CNV RELATED TO MULTIFOCAL PATTERN TYPE WITH ANTI-VEGF (RANIBIZUMAB) INTRAVITREAL INJECTIONSRETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2012, 32 (09): : 1942 - 1949Vaclavik, Veronika论文数: 0 引用数: 0 h-index: 0机构: Hop Ophtalm Jules Gonin, CH-1004 Lausanne, Switzerland Clin Ophtalmol Univ, HUG, Geneva, Switzerland Hop Ophtalm Jules Gonin, CH-1004 Lausanne, SwitzerlandTran, Hoai V.论文数: 0 引用数: 0 h-index: 0机构: Hop Ophtalm Jules Gonin, CH-1004 Lausanne, Switzerland Hop Ophtalm Jules Gonin, CH-1004 Lausanne, SwitzerlandGaillard, Marie-Claire论文数: 0 引用数: 0 h-index: 0机构: Hop Ophtalm Jules Gonin, CH-1004 Lausanne, Switzerland Hop Ophtalm Jules Gonin, CH-1004 Lausanne, SwitzerlandSchorderet, Daniel F.论文数: 0 引用数: 0 h-index: 0机构: IRO, Sion, Switzerland Univ Lausanne, Fac Biol & Med, Lausanne, Switzerland Ecole Polytech Fed Lausanne, Fac Life Sci, Lausanne, Switzerland Hop Ophtalm Jules Gonin, CH-1004 Lausanne, SwitzerlandMunier, Francis L.论文数: 0 引用数: 0 h-index: 0机构: Hop Ophtalm Jules Gonin, CH-1004 Lausanne, Switzerland IRO, Sion, Switzerland Hop Ophtalm Jules Gonin, CH-1004 Lausanne, Switzerland
- [33] Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophyMOLECULAR VISION, 2011, 17 (37): : 309 - 322Lacassagne, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceDhuez, Aurore论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceRigaudiere, Florence论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Serv Explorat Fonct Visuelles, F-75475 Paris, France Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceDansault, Anouk论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceVetu, Christelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceBigot, Karine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceVieira, Veronique论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FrancePuech, Bernard论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Hop Roger Salengro, Serv Explorat Fonct Vis, Lille, France Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceDefoort-Dhellemmes, Sabine论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Hop Roger Salengro, Serv Explorat Fonct Vis, Lille, France Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, FranceAbitbol, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, France CHU Necker Enfants Malad, AP HP, Serv Ophtalmol, Paris, France Univ Paris 05, CERTO, EA 2502, Fac Med Paris Descartes Site Necker, F-75015 Paris, France
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- [35] Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal DystrophyTURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, 2022, 52 (04): : 270 - 275Kahraman, Neslihan Sinim论文数: 0 引用数: 0 h-index: 0机构: Acibadem Kayseri Hosp, Clin Ophthalmol, Kayseri, Turkey Acibadem Kayseri Hosp, Clin Ophthalmol, Kayseri, TurkeyOner, Ayse论文数: 0 引用数: 0 h-index: 0机构: Acibadem Kayseri Hosp, Clin Ophthalmol, Kayseri, Turkey Acibadem Kayseri Hosp, Clin Ophthalmol, Kayseri, TurkeyOzkul, Yusuf论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Dept Med Genet, Fac Med, Kayseri, Turkey Acibadem Kayseri Hosp, Clin Ophthalmol, Kayseri, TurkeyDundar, Munis论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Dept Med Genet, Fac Med, Kayseri, Turkey Acibadem Kayseri Hosp, Clin Ophthalmol, Kayseri, Turkey
- [36] Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in TaiwanCLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2020, 48 (04): : 486 - 499Chen, Zhen-Ji论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaLin, Keng-Hung论文数: 0 引用数: 0 h-index: 0机构: Taichung Vet Gen Hosp, Dept Ophthalmol, Taichung, Taiwan Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaLee, Shi-Huang论文数: 0 引用数: 0 h-index: 0机构: Taichung Tzu Chi Hosp, Dept Ophthalmol, Taichung, Taiwan Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaShen, Ren-Juan论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaFeng, Zhuo-Kun论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaWang, Xiao-Fang论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaHuang, Xiu-Feng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaHuang, Zhi-Qin论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R ChinaJin, Zi-Bing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Stem Cell Res, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Ctr Int Res Regenerat Med & Neurogenet, Wenzhou, Peoples R China Wenzhou Med Univ, Natl Clin Res Ctr Ocular Dis, State Key Lab Ophthalmol Optometry & Visual Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Eye Hosp, Div Ophthalm Genet, Wenzhou 325027, Peoples R China
- [37] Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation SequencingPLOS ONE, 2014, 9 (08):Watson, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandEl-Asrag, Mohammed论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandParry, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Genet Sect, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandMorgan, Joanne E.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Genet Sect, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandLogan, Clare V.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandCarr, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Genet Sect, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandSheridan, Eamonn论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Genet Sect, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandCharlton, Ruth论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandJohnson, Colin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandTaylor, Graham论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England论文数: 引用数: h-index:机构:McKibbin, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England St James Univ Hosp, Dept Ophthalmol, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandInglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandAli, Manir论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England
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- [39] 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
- [40] Early Onset Retinal Dystrophy Due to Mutations in LRAT: Molecular Analysis and Detailed Phenotypic StudyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2012, 53 (07) : 3927 - 3938Borman, Arundhati Dev论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandOcaka, Louise A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandMackay, Donna S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandRipamonti, Caterina论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandHenderson, Robert H.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandMoradi, Phillip论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandHall, Georgina论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester, Lancs, England St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 0JH, Lancs, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandBlack, Graeme C.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester, Lancs, England St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 0JH, Lancs, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandRobson, Anthony G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandFitzke, Fred论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandStockman, Andrew论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, England UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Professorial Unit, London EC1V 2PD, England