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- [1] CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese familyOPHTHALMIC GENETICS, 2018, 39 (04) : 500 - 507Kubota, Daiki论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanGocho, Kiyoko论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanKikuchi, Sachiko论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanAkeo, Keiichiro论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanMiura, Masahiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med Univ, Ibaraki Med Ctr, Dept Ophthalmol, Ibaraki, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanYamaki, Kunihiko论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanTakahashi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Ophthalmol, Bunkyo Ku, Tokyo, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, JapanKameya, Shuhei论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan Nippon Med Sch Chiba Hokusoh Hosp, Dept Ophthalmol, 1715 Kamagari, Inzai, Chiba 2701694, Japan
- [2] Mild cone-rod dystrophy and sensorineural hearing loss with CEP250 mutation in a Japanese familyACTA OPHTHALMOLOGICA, 2018, 96 : 46 - 47Gocho, K.论文数: 0 引用数: 0 h-index: 0机构: Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, Japan Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, JapanKubota, D.论文数: 0 引用数: 0 h-index: 0机构: Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, Japan Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, JapanTakahashi, H.论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Ophthalmol, Tokyo, Japan Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, JapanKameya, S.论文数: 0 引用数: 0 h-index: 0机构: Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, Japan Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Inzai, Japan
- [3] Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophyACTA OPHTHALMOLOGICA, 2015, 93 (05) : E392 - E393论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Plagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, EnglandRobson, Anthony论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, England Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, England Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, England Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London EC1V 9EL, England
- [4] Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in IsraelINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (01) : 420 - 430Lazar, Csilla H.论文数: 0 引用数: 0 h-index: 0机构: NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA Univ Babes Bolyai, Mol Biol Ctr, Interdisciplinary Res Inst Bionano Sci, R-3400 Cluj Napoca, Romania NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Kimchi, Adva论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USAZelinger, Lina论文数: 0 引用数: 0 h-index: 0机构: NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USAMizrahi-Meissonnier, Liliana论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USAMarks-Ohana, Devorah论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USABoleda, Alexis论文数: 0 引用数: 0 h-index: 0机构: NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USARatnapriya, Rinki论文数: 0 引用数: 0 h-index: 0机构: NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USASharon, Dror论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USASwaroop, Anand论文数: 0 引用数: 0 h-index: 0机构: NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USABanin, Eyal论文数: 0 引用数: 0 h-index: 0机构: NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA
- [5] Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Royer-Bertrand, Beryl论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Univ Lausanne, Dept Med Genet, Lausanne, SwitzerlandBedoni, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Univ Lausanne, Dept Med Genet, Lausanne, SwitzerlandKjellstrom, Ulrika论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Ophthalmol, Lund, Sweden Univ Lausanne, Dept Med Genet, Lausanne, SwitzerlandAndreasson, Sten论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Ophthalmol, Lund, Sweden Univ Lausanne, Dept Med Genet, Lausanne, SwitzerlandTsilimbaris, Miltiadis K.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Dept Ophthalmol, Iraklion, Greece Univ Lausanne, Dept Med Genet, Lausanne, Switzerland论文数: 引用数: h-index:机构:Blazaki, Stella论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Dept Ophthalmol, Iraklion, Greece Univ Lausanne, Dept Med Genet, Lausanne, Switzerland论文数: 引用数: h-index:机构:
- [6] Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 173 - 174Ascari, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumVan De Sompele, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumDerycke, L.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumHoltappels, G.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumKrysko, O.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumVan Dorpe, J.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pathol, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:Van Laethem, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumBalikova, I.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Free Univ Brussels, Brussels, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumGerris, J.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Gynecol, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumBachert, C.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumLeroy, B. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:Coppieters, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium
- [7] First missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertilityINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)Coppieters, Frauke论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumAscari, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumVan De Sompele, Stijn论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumDerycke, Lara论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumGabriele, Holtappels论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumKrysko, Olga论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumVan Dorpe, Jo论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pathol, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:Balikova, Irina论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Free Univ Brussels, Brussels, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumGerris, Jan论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Gynaecol, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumBachert, Claus论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Upper Airways Res Lab, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, BelgiumLeroy, Bart Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium
- [8] Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (03) : 770 - 776论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Royer-Bertrand, Beryl论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland Univ Lausanne Hosp, Ctr Mol Dis, CH-1011 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandMbefo, Martial K.论文数: 0 引用数: 0 h-index: 0机构: Jules Gonin Ophthalm Hosp, Unit Gene Therapy & Stem Cell Biol, CH-1004 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandBedoni, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandKjellstrom, Ulrika论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Ophthalmol, S-20502 Lund, Sweden Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandEl Zaoui, Ikram论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandDi Gioia, Silvio Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandBalzano, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandCisarova, Katarina论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland论文数: 引用数: h-index:机构:Decembrini, Sarah论文数: 0 引用数: 0 h-index: 0机构: Jules Gonin Ophthalm Hosp, Unit Gene Therapy & Stem Cell Biol, CH-1004 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandPlainis, Sotiris论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Dept Ophthalmol, Iraklion 71003, Greece Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandBlazaki, Styliani V.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Dept Ophthalmol, Iraklion 71003, Greece Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandKhan, Muhammad Imran论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandMicheal, Shazia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandBoldt, Karsten论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Ophthalm Res, Med Proteome Ctr, D-72074 Tubingen, Germany Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandUeffing, Marius论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Ophthalm Res, Med Proteome Ctr, D-72074 Tubingen, Germany Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandMoulin, Alexandre P.论文数: 0 引用数: 0 h-index: 0机构: Jules Gonin Ophthalm Hosp, Dept Ophthalmol, CH-1004 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Ctr Neurosci, NL-6525 EN Nijmegen, Netherlands Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandRoepman, Ronald论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandArsenijevic, Yvan论文数: 0 引用数: 0 h-index: 0机构: Jules Gonin Ophthalm Hosp, Unit Gene Therapy & Stem Cell Biol, CH-1004 Lausanne, Switzerland Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandTsilimbaris, Miltiadis K.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Dept Ophthalmol, Iraklion 71003, Greece Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, SwitzerlandAndreasson, Sten论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Skane Univ Hosp, Dept Ophthalmol, S-20502 Lund, Sweden Univ Lausanne, Dept Computat Biol, Unit Med Genet, CH-1011 Lausanne, Switzerland论文数: 引用数: h-index:机构:
- [9] Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric populationGENETICS IN MEDICINE, 2015, 17 (11) : 901 - 911Kim, Nayoung K. D.论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaKim, Ah Reum论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Otorhinolaryngol, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaPark, Kyung Tae论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Otorhinolaryngol, Seoul, South Korea Seoul ENT Clin, Gimhae, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaKim, So Young论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Otorhinolaryngol, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaKim, Min Young论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Bundang Hosp, Dept Otorhinolaryngol, Songnam, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South Korea论文数: 引用数: h-index:机构:Woo, Se Jun论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Bundang Hosp, Dept Ophthalmol, Songnam, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaOh, Seung-Ha论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Otorhinolaryngol, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaPark, Woong-Yang论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Dept Mol Cell Biol, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South KoreaChoi, Byung Yoon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Bundang Hosp, Dept Otorhinolaryngol, Songnam, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South Korea
- [10] Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosisMETA GENE, 2018, 17 : 167 - 171Rafati, Maryam论文数: 0 引用数: 0 h-index: 0机构: ACECR, Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, Iran Hope Generat Fdn, Fetal Hlth Res Ctr, Tehran, Iran ACECR, Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, IranTara, Seyedeh Zahra论文数: 0 引用数: 0 h-index: 0机构: Hope Generat Fdn, Fetal Hlth Res Ctr, Tehran, Iran ACECR, Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, IranHoseininasab, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: ACECR, Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, Iran ACECR, Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, IranGhaffari, Saeed Reza论文数: 0 引用数: 0 h-index: 0机构: Hope Generat Fdn, Fetal Hlth Res Ctr, Tehran, Iran Gene Clin, Tehran, Iran ACECR, Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, Iran