共 50 条
- [1] Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosaINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)Manes, Gael论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1051, Montpellier, France Univ Montpellier, Montpellier, France INSERM, U1051, Montpellier, FranceZanlonghi, Xavier论文数: 0 引用数: 0 h-index: 0机构: Eye Clin Jules Verne, Nantes, France INSERM, U1051, Montpellier, FranceAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, Inst Invest Sanitaria, Dept Genet, Madrid, Spain INSERM, U1051, Montpellier, France论文数: 引用数: h-index:机构:Olivier, Guillaume论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1051, Montpellier, France Univ Montpellier, Montpellier, France INSERM, U1051, Montpellier, FranceBocquet, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier, France CHU Montpellier, Ctr Reference Malad Sensorielles Genet, Montpellier, France INSERM, U1051, Montpellier, FranceSenechal, Audrey论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1051, Montpellier, France INSERM, U1051, Montpellier, France论文数: 引用数: h-index:机构:Hamel, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier, France CHU Montpellier, Ctr Reference Malad Sensorielles Genet, Montpellier, France INSERM, U1051, Montpellier, France
- [2] Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disabilityJOURNAL OF MEDICAL GENETICS, 2017, 54 (10) : 698 - 704Tatour, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Fac Med, Haifa, Israel Technion, Rappaport Fac Med, Haifa, IsraelSanchez-Navarro, Iker论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Hlth Res Inst, Dept Genet, IIS,FJD,UAM, Madrid, Spain Inst Salud Carlos III, CIBERER, Madrid, Spain Technion, Rappaport Fac Med, Haifa, IsraelChervinsky, Elana论文数: 0 引用数: 0 h-index: 0机构: Emek Med Ctr, Genet Inst, Afula, Israel Technion, Rappaport Fac Med, Haifa, IsraelHakonarson, Hakon论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Technion, Rappaport Fac Med, Haifa, IsraelGawi, Haithum论文数: 0 引用数: 0 h-index: 0机构: Clalit Hlth Serv, Sharon, Israel Technion, Rappaport Fac Med, Haifa, IsraelTahsin-Swafiri, Saoud论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Hlth Res Inst, Dept Genet, IIS,FJD,UAM, Madrid, Spain Inst Salud Carlos III, CIBERER, Madrid, Spain Technion, Rappaport Fac Med, Haifa, IsraelLeibu, Rina论文数: 0 引用数: 0 h-index: 0机构: Alberto Moscona Dept Ophthalmol, Rambam Hlth Care Campus, Haifa, Israel Technion, Rappaport Fac Med, Haifa, IsraelIsabel Lopez-Molina, Maria论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez DiazUniv Hosp FJD, Dept Ophthalmol, Madrid, Spain Technion, Rappaport Fac Med, Haifa, IsraelFernandez-Sanz, Guillermo论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez DiazUniv Hosp FJD, Dept Ophthalmol, Madrid, Spain Technion, Rappaport Fac Med, Haifa, IsraelAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Hlth Res Inst, Dept Genet, IIS,FJD,UAM, Madrid, Spain Inst Salud Carlos III, CIBERER, Madrid, Spain Technion, Rappaport Fac Med, Haifa, IsraelBen-Yosef, Tamar论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Fac Med, Haifa, Israel Technion, Rappaport Fac Med, Haifa, Israel
- [3] Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (06) : 1305 - 1315Arno, Gavin论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandAgrawal, Smriti A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandEblimit, Aiden论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandBellingham, James论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandXu, Mingchu论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandWang, Feng论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandChakarova, Christina论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandParfitt, David A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandLane, Amelia论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandBurgoyne, Thomas论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandHull, Sarah论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandCarss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge CB2 0PT, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandFiorentino, Alessia论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandHayes, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandMunro, Peter M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandNicols, Ralph论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandPontikos, Nikolas论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandAsomugha, Chinwe论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England UCSF, Sch Med, Dept Ophthalmol, Koret Vis Ctr, San Francisco, CA 94133 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London WC1E 6BT, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandMichaelides, Michel论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandHardcastle, Alison J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandLi, Yumei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandCukras, Catherine论文数: 0 引用数: 0 h-index: 0机构: NEI, NIH, Bethesda, MD 20892 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandCheetham, Michael E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandChen, Rui论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA UCL, Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England
- [4] Mutations in MVK cause non-syndromic autosomal recessive retinitis pigmentosaINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)Siemiatkowska, Anna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, Dept Human Genet, Nijmegen, NetherlandsStoffels, Monique论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Gen Internal Med, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsNeveling, Kornelia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, Dept Human Genet, Nijmegen, NetherlandsSimon, Anna论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Gen Internal Med, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan Hagen, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus MC, Dept Immunol, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsDen Hollander, Anneke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, Dept Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsCremers, Frans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, Dept Human Genet, Nijmegen, Netherlandsvan den Born, L.论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsCollin, Rob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, Dept Human Genet, Nijmegen, Netherlands
- [5] Arrestin gene mutations in autosomal recessive retinitis pigmentosaARCHIVES OF OPHTHALMOLOGY, 1998, 116 (04) : 498 - 501Nakazawa, M论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, JapanWada, Y论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, JapanTamai, M论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan
- [6] SLC7A14 linked to autosomal recessive retinitis pigmentosaNature Communications, 5Zi-Bing Jin论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Xiu-Feng Huang论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Ji-Neng Lv论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Lue Xiang论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Dong-Qing Li论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Jiangfei Chen论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Changjiang Huang论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Jinyu Wu论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Fan Lu论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,Jia Qu论文数: 0 引用数: 0 h-index: 0机构: The Eye Hospital,
- [7] SLC7A14 linked to autosomal recessive retinitis pigmentosaNATURE COMMUNICATIONS, 2014, 5 : 3517Jin, Zi-Bing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaHuang, Xiu-Feng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaLv, Ji-Neng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaXiang, Lue论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaLi, Dong-Qing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaChen, Jiangfei论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Watershed Sci & Environm Ecol, Zhejiang Prov Key Lab Technol & Applicat Model Or, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaHuang, Changjiang论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Watershed Sci & Environm Ecol, Zhejiang Prov Key Lab Technol & Applicat Model Or, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaWu, Jinyu论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaLu, Fan论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R ChinaQu, Jia论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, State Key Lab Cultivat Base, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Peoples R China
- [8] Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK GeneINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (13) : 9665 - 9673Stone, Edwin M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USA Univ Iowa, Carver Coll Med, Howard Hughes Med Inst, Iowa City, IA 52242 USA Univ Iowa, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USALuo, Xunda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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USAHeon, Elise论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Iowa, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, 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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USAWeleber, Richard G.论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Casey Eye Inst, Oregon Retinal Degenerat Ctr, Portland, OR 97201 USA Univ Iowa, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USAHalder, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USAAffatigato, Louisa M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USAGoldberg, Jacqueline 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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, 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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, 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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, 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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, 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, Inst Vis Res, Carver Coll Med, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USA
- [9] Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosaOPHTHALMIC GENETICS, 2017, 38 (01) : 70 - 73Sugahara, Masako论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanOishi, Maho论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanOishi, Akio论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan论文数: 引用数: h-index:机构:Morooka, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanGotoh, Norimoto论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanKang, Inyeop论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanYoshimura, Nagahisa论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan
- [10] Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopiaBRITISH JOURNAL OF OPHTHALMOLOGY, 2015, 99 (10) : 1360 - 1365Chassine, Thomas论文数: 0 引用数: 0 h-index: 0机构: CHRU, Maladies Sensorielles Genet, Montpellier, France CHRU, Maladies Sensorielles Genet, Montpellier, FranceBocquet, Beatrice论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Neurosci Montpellier, U1051, Montpellier, France Univ Montpellier I, Montpellier, France Univ Montpellier 2, Montpellier, France CHRU, Maladies Sensorielles Genet, Montpellier, France论文数: 引用数: h-index:机构:Avila-Fernandez, Almudena论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, Univ Hosp, Inst Invest Sanitaria, Dept Genet, E-28040 Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain CHRU, Maladies Sensorielles Genet, Montpellier, FranceAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, Univ Hosp, Inst Invest Sanitaria, Dept Genet, E-28040 Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain CHRU, Maladies Sensorielles Genet, Montpellier, FranceCollin, Rob W. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, NL-6525 ED Nijmegen, Netherlands CHRU, Maladies Sensorielles Genet, Montpellier, FranceCorton, Marta论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, Univ Hosp, Inst Invest Sanitaria, Dept Genet, E-28040 Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain CHRU, Maladies Sensorielles Genet, Montpellier, FranceHejtmancik, J. Fielding论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA CHRU, Maladies Sensorielles Genet, Montpellier, Francevan den Born, L. Ingeborgh论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Rotterdam, Netherlands CHRU, Maladies Sensorielles Genet, Montpellier, FranceKlevering, B. Jeroen论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands CHRU, Maladies Sensorielles Genet, Montpellier, FranceRiazuddin, S. Amer论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA CHRU, Maladies Sensorielles Genet, Montpellier, FranceSendon, Nathacha论文数: 0 引用数: 0 h-index: 0机构: CHRU, Maladies Sensorielles Genet, Montpellier, France CHRU, Maladies Sensorielles Genet, Montpellier, FranceLacroux, Annie论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Neurosci Montpellier, U1051, Montpellier, France Univ Montpellier I, Montpellier, France Univ Montpellier 2, Montpellier, France CHRU, Maladies Sensorielles Genet, Montpellier, France论文数: 引用数: h-index:机构:Hamel, Christian P.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Maladies Sensorielles Genet, Montpellier, France INSERM, Inst Neurosci Montpellier, U1051, Montpellier, France Univ Montpellier I, Montpellier, France Univ Montpellier 2, Montpellier, France CHRU, Maladies Sensorielles Genet, Montpellier, France