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- [1] PRPH2-Associated Retinopathy Novel Variants and Genotype-Phenotype CorrelationsOPHTHALMOLOGY RETINA, 2023, 7 (05): : 450 - 461Bianco, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalyArrigo, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalyAntropoli, Alessio论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalySaladino, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalySpiga, Ivana论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalyPatricelli, Maria Grazia论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy IRCCS San Raffaele Sci Inst, Med Genet, Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalyBandello, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalyCarrera, Paola论文数: 0 引用数: 0 h-index: 0机构: IRCCS San Raffaele Sci Inst, Lab Clin Genom, Milan, Italy IRCCS San Raffaele Sci Inst, Unit Genom Human Dis Diag, Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, ItalyParodi, Maurizio Battaglia论文数: 0 引用数: 0 h-index: 0机构: Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Dept Ophthalmol, Via Olgettina 60, I-20132 Milan, Italy
- [2] Retinal dystrophies and variants in PRPH2ARQUIVOS BRASILEIROS DE OFTALMOLOGIA, 2019, 82 (02) : 158 - 160da Palma, Mariana Matioli论文数: 0 引用数: 0 h-index: 0机构: Inst Suel Abujamra, Sao Paulo, SP, Brazil Univ Fed Sao Paulo, Sao Paulo, SP, Brazil Inst Suel Abujamra, Sao Paulo, SP, BrazilMartin, Daniel论文数: 0 引用数: 0 h-index: 0机构: Inst Suel Abujamra, Sao Paulo, SP, Brazil Inst Suel Abujamra, Sao Paulo, SP, BrazilSalles, Mariana Vallim论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, SP, Brazil Inst Genet Ocular, Sao Paulo, SP, Brazil Inst Suel Abujamra, Sao Paulo, SP, BrazilTeixeira Motta, Fabiana Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, SP, Brazil Inst Genet Ocular, Sao Paulo, SP, Brazil Inst Suel Abujamra, Sao Paulo, SP, BrazilAbujamra, Suel论文数: 0 引用数: 0 h-index: 0机构: Inst Suel Abujamra, Sao Paulo, SP, Brazil Inst Suel Abujamra, Sao Paulo, SP, BrazilFerraz Sallum, Juliana Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Sao Paulo, SP, Brazil Inst Genet Ocular, Sao Paulo, SP, Brazil Inst Suel Abujamra, Sao Paulo, SP, Brazil
- [3] Genotype-phenotype correlation in PRPH2-associated retinopathyCLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2023, 51 (09): : 927 - 928Jeffery, Rachael C. Heath论文数: 0 引用数: 0 h-index: 0机构: Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaVincent, Andrea L.论文数: 0 引用数: 0 h-index: 0机构: Univ Auckland, Dept Ophthalmol, Auckland, New Zealand Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaThompson, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Sir Charles Gairdner Hosp, Nedlands, WA, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaMcLaren, Terri论文数: 0 引用数: 0 h-index: 0机构: Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Sir Charles Gairdner Hosp, Nedlands, WA, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaLamey, Tina论文数: 0 引用数: 0 h-index: 0机构: Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Sir Charles Gairdner Hosp, Nedlands, WA, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaRoshandel, Danial论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaAyton, Lauren论文数: 0 引用数: 0 h-index: 0机构: Ctr Eye Res Australia, Melbourne, Vic, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, AustraliaChen, Fred K.论文数: 0 引用数: 0 h-index: 0机构: Lions Eye Inst, Nedlands, WA, Australia Royal Eye & Ear Hosp, Dept Ophthalmol, Melbourne, Vic, Australia
- [4] Genotype-Phenotype Correlation in Patients with PRPH2-MutationsKLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2015, 232 (03) : 266 - 274Maertz, J.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, Germany Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, GermanyGloeckle, N.论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Genet, Tubingen, Germany Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, GermanyNentwich, M. M.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, Germany Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, GermanyRudolph, G.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, Germany Klinikum Ludwig Maximilians Univ Munchen, Augenklin, D-80336 Munich, Germany
- [5] Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive PhenotypeGENES, 2022, 13 (07)Napolitano, Filomena论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, InterUniv Ctr Res Neurosci, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyDell'Aquila, Milena论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, InterUniv Ctr Res Neurosci, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyTerracciano, Chiara论文数: 0 引用数: 0 h-index: 0机构: Azienda Unita Sanit Locale Piacenza, Neurol Unit, I-29121 Piacenza, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyFranzese, Giuseppina论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, InterUniv Ctr Res Neurosci, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyGentile, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Environm Biol & Pharmaceut Sci & Technol, Lab Cellular & Mol Neuropathol, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyPiluso, Giulio论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, Via L De Crecchio 7, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalySantoro, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Womens & Childrens Hlth & Gen & Specialized, Via Luigi De Crecchio 2, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Mental & Phys Hlth & Prevent Med, Clin Child & Adolescent Neuropsychiat, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyColavito, Davide论文数: 0 引用数: 0 h-index: 0机构: R&I Genet SRL, I-35127 Padua, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyPatane, Anna论文数: 0 引用数: 0 h-index: 0机构: R&I Genet SRL, I-35127 Padua, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalyDe Blasiis, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Mental & Phys Hlth & Prevent Med, Sect Human Anat, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, ItalySampaolo, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, InterUniv Ctr Res Neurosci, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy论文数: 引用数: h-index:机构:Melone, Mariarosa Anna Beatrice论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, InterUniv Ctr Res Neurosci, I-80131 Naples, Italy Temple Univ, Ctr Biotechnol, Sbarro Inst Canc Res & Mol Med, Philadelphia, PA 19122 USA Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Dept Adv Med & Surg Sci, Div Neurol 2, I-80131 Naples, Italy
- [6] Pathogenic variants in CASK: Expanding the genotype-phenotype correlationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2617 - 2626Dubbs, Holly论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USAOrtiz-Gonzalez, Xilma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USAMarsh, Eric D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA
- [7] The spectrum of phenotype and genotype observed in PRPH2 associated retinal degeneration.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)Biswas, Pooja论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USALazaro, Danielle论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USAEmily, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USABerry, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USAWoodard, DaNae论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USAAyyagari, Radha论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA Univ Calif San Diego, Dept Ophthalmol, Shiley Eye Inst, La Jolla, CA USA
- [8] Genotype-phenotype correlations in individuals with pathogenic RERE variantsHUMAN MUTATION, 2018, 39 (05) : 666 - 675Jordan, Valerie K.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAFregeau, Brieana论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAGe, Xiaoyan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 Genet, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAGiordano, Jessica论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA Columbia Univ, Med Ctr, Dept OB GYN, New York, NY USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAWapner, Ronald J.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA Columbia Univ, Med Ctr, Dept OB GYN, New York, NY USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABalci, Tugce B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USACarter, Melissa T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABernat, John A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Stead Family Dept Pediat, Iowa City, IA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAMoccia, Amanda N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USASrivastava, Anshika论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAMartin, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Univ Michigan, Sch Med, Dept Pediat, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABielas, Stephanie L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAPappas, John论文数: 0 引用数: 0 h-index: 0机构: NYU, Sch Med, New York, NY USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USASvoboda, Melissa D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp San Antonio, Dept Pediat, Baylor Coll Med, San Antonio, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USARio, Marlene论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Lab Dev Brain Disorders, Paris, France Necker Enfants Malades Univ Hosp, AP HP, Serv Genet, Paris, France Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABoddaert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Lab Dev Brain Disorders, Paris, France Necker Enfants Malades Univ Hosp, AP HP, Pediat Radiol, Paris, France Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USACantagrel, Vincent论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Lab Dev Brain Disorders, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USALewis, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAScaglia, Fernando论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAKohler, Jennefer N.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USADries, Annika M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USARosenfeld, Jill 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, Dept Mol Physiol & Biophys, Houston, TX 77030 USADeFilippo, Colette论文数: 0 引用数: 0 h-index: 0机构: Lucile Packard Childrens Stanford, Stanford Childrens Hlth, Palo Alto, CA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAThorson, Willa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Miami, FL 33136 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAYang, Yaping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 Genet, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USASherr, Elliott H.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABi, Weimin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 Genet, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAScott, Daryl A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA
- [9] Inherited Retinal Disease due to PRPH2 gene pathogenic variantsINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)da Palma, Mariana Matioli论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, Brazil Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, BrazilMotta, Fabiana Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, Brazil Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, BrazilSalles, Mariana V.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, Brazil Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, BrazilSallum, Juliana M. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, Brazil Univ Fed Sao Paulo, Ophthalmol & Visual Sci, Sao Paulo, Brazil
- [10] Genotype-phenotype correlationsARRHYTHMOGENIC RV CARDIOMYOPATHY/ DYSPLASIA: RECENT ADVANCES, 2007, : 21 - +Bauce, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, Italy Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, ItalyNava, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, Italy Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, Italy