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- [33] Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degenerationSCIENTIFIC REPORTS, 2020, 10 (01)Sacristan-Reviriego, Almudena论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandLe, Hoang Mai论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandGeorgiou, Michalis论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, City Rd, London EC1V 2PD, England UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandMeunier, Isabelle论文数: 0 引用数: 0 h-index: 0机构: CHRU Montpellier, Ctr Natl Reference Malad Sensorielles Genet, Serv Ophtalmol, Hop Gui de Chauliac, 80 Rue Augustin Fliche, F-34295 Montpellier, France UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandBocquet, Beatrice论文数: 0 引用数: 0 h-index: 0机构: CHRU Montpellier, Ctr Natl Reference Malad Sensorielles Genet, Serv Ophtalmol, Hop Gui de Chauliac, 80 Rue Augustin Fliche, F-34295 Montpellier, France UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandRoux, Anne-Francoise论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Lab Genet Mol, Montpellier, France UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandProdromou, Chrisostomos论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Biochem & Biomed, Brighton BN1 9QG, Falmer, England UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, EnglandBainbridge, James论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, City Rd, London EC1V 2PD, England UCL, 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, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Moorfields Eye Hosp, City Rd, London EC1V 2PD, England UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, Englandvan der Spuy, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England UCL, UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England
- [34] Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degenerationScientific Reports, 10Almudena Sacristan-Reviriego论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyHoang Mai Le论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyMichalis Georgiou论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyIsabelle Meunier论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyBeatrice Bocquet论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyAnne-Françoise Roux论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyChrisostomos Prodromou论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyJames Bainbridge论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyMichel Michaelides论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of OphthalmologyJacqueline van der Spuy论文数: 0 引用数: 0 h-index: 0机构: University College London,UCL Institute of Ophthalmology
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- [38] Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathiesScientific Reports, 14Amir Ghaffari Jolfayi论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterErfan Kohansal论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterSerwa Ghasemi论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterNiloofar Naderi论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterMahshid Hesami论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterMohammadHossein MozafaryBazargany论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterMaryam Hosseini Moghadam论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterAmir Farjam Fazelifar论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterMajid Maleki论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research CenterSamira Kalayinia论文数: 0 引用数: 0 h-index: 0机构: Iran University of Medical Sciences,Rajaie Cardiovascular Medical and Research Center
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