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- [21] In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)Cordero, Jennifer Buenaventura论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USA Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USAWilliams, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USA Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USAPetersen, Michael B.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Clin Genet, Aalborg, Denmark Aalborg Univ, Med Clin, Aalborg, Denmark Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USAKokotas, Haris论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Genet, Athens, Greece Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USAGrigoriadou, Maria论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Genet, Athens, Greece Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USAKitsos, George论文数: 0 引用数: 0 h-index: 0机构: Univ Ioannina, Sch Med, Ophthalmol, Ioannina, Greece Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USAMandal, Nawajes A.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Ctr Hlth Sci, Ophthalmol, Memphis, TN 38163 USA Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USASimpson, Claire L.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USA Univ Tennessee, Ctr Hlth Sci, Ophthalmol, Memphis, TN 38163 USA Univ Tennessee, Ctr Hlth Sci, Genet Genom & Informat, Memphis, TN 38163 USA
- [22] Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom CohortOPHTHALMOLOGY RETINA, 2024, 8 (07): : 699 - 709Lin, Siying论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandVermeirsch, Sandra论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandPontikos, Nikolas论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandFrcophth, Siying论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandMartin-Gutierrez, Maria Pilar论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England论文数: 引用数: h-index:机构:Malka, Samantha论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandSchiff, Elena论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandKnight, Hannah论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandWright, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England论文数: 引用数: h-index:机构:Simcoe, Mark J.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandYu-Wai-Man, Patrick论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandMoosajee, Mariya论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandMichaelides, Michel论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandMahroo, Omar A.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England St Thomas Hosp, Dept Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, 2nd Floor,Wolfson Bldg,11-43 Bath St, London EC1V 9EL, England论文数: 引用数: h-index:机构:
- [23] Up-To-Date Analysis of Genetic Variants in Cardiovascular Disease-Associated Genes across a Diverse Cohort of Mendelian Conditions Patients and Electronic Health RecordsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1002 - 1002Akawi, Nadia论文数: 0 引用数: 0 h-index: 0机构: United Arab Emirates Univ, Genet & Genom, Al Ain, U Arab Emirates United Arab Emirates Univ, Genet & Genom, Al Ain, U Arab EmiratesAljasmi, Fatma论文数: 0 引用数: 0 h-index: 0机构: United Arab Emirates Univ, Genet & Genom, Al Ain, U Arab Emirates United Arab Emirates Univ, Genet & Genom, Al Ain, U Arab Emirates
- [24] GENOTYPE-PHENOTYPE CORRELATION IN A COHORT OF INDIVIDUALS WITH DISEASE-CAUSING VARIANTS IN COL4A3/COL4A4 ASSOCIATED WITH TYPE-IV-COLLAGEN-RELATED NEPHROPATHY (ALPORT SYNDROME AND THIN BASEMENT MEMBRANE NEPHROPATHY)PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2854 - 2854Hannes, Simmendinger论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyMaria, Riedhammer Korbinian论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyVelibor, Tasic论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Med Fac Skopje, Skopje, North Macedonia Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyJovana, Putnik论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Dept Nephrol, Inst Mother & Child Hlth Care Serbia dr Vukan Cup, Belgrade, Serbia Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyNora, Abazi-emini论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Med Fac Skopje, Skopje, North Macedonia Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyNatasa, Stajic论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Dept Nephrol, Inst Mother & Child Hlth Care Serbia dr Vukan Cup, Belgrade, Serbia Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyMarc, Weidenbusch论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Klinikum Univ MUnchen, Med Klin & Poliklin 4, Nephrol Zentrum, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyLudwig, Patzer论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp St Elisabeth & St Barbara, Halle, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyAdrian, Lungu论文数: 0 引用数: 0 h-index: 0机构: Fundeni Clin Inst, Pediat Nephrol Dept, Bucharest, Romania Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyGordana, Milosevski-lomic论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Dept Nephrol, Inst Mother & Child Hlth Care Serbia dr Vukan Cup, Belgrade, Serbia Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyMatthias, Braunisch论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Dept Nephrol, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyRoman, Guenthner论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Dept Nephrol, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyJasmina, Comic论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, GermanyJulia, Hoefele论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany