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- [21] 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
- [22] Genotype-phenotype correlations of known and novel variants in the PRPH2 geneINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)Dockery, Adrian论文数: 0 引用数: 0 h-index: 0机构: Univ Dublin Trinity Coll, Genet, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandWhelan, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Dublin Trinity Coll, Genet, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandKhan, Mubeen论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen, Gelderland, Netherlands Univ Medisch Ctr Groningen, Dept Pathol & Med Biol, Groningen, Netherlands Univ Dublin Trinity Coll, Genet, Dublin, IrelandCorradi, Zelia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen, Gelderland, Netherlands Univ Dublin Trinity Coll, Genet, Dublin, IrelandStephenson, Kirk A. J.论文数: 0 引用数: 0 h-index: 0机构: Mater Misericordiae Univ Hosp, Clin Genet Ctr Ophthalmol, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandZhu, Julia论文数: 0 引用数: 0 h-index: 0机构: Mater Misericordiae Univ Hosp, Clin Genet Ctr Ophthalmol, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandKirk, Claire论文数: 0 引用数: 0 h-index: 0机构: Belfast Hlth & Social Care Trust, Belfast, Antrim, North Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandCairns, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Belfast Hlth & Social Care Trust, Belfast, Antrim, North Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandO'Byrne, James J.论文数: 0 引用数: 0 h-index: 0机构: Mater Misericordiae Univ Hosp, Clin Genet Ctr Ophthalmol, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandTurner, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Mater Misericordiae Univ Hosp, Clin Genet Ctr Ophthalmol, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandDhaenens, Claire-Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, Lille, Hauts De France, France Univ Dublin Trinity Coll, Genet, Dublin, IrelandSilvestri, Giuliana论文数: 0 引用数: 0 h-index: 0机构: Belfast Hlth & Social Care Trust, Belfast, Antrim, North Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandKeegan, David J.论文数: 0 引用数: 0 h-index: 0机构: Mater Misericordiae Univ Hosp, Clin Genet Ctr Ophthalmol, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandKenna, Paul F.论文数: 0 引用数: 0 h-index: 0机构: Univ Dublin Trinity Coll, Genet, Dublin, Ireland Royal Coll Surgeons Ireland, Dept Ophthalmol, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, IrelandCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen, Gelderland, Netherlands Univ Dublin Trinity Coll, Genet, Dublin, IrelandFarrar, G. Jane论文数: 0 引用数: 0 h-index: 0机构: Univ Dublin Trinity Coll, Genet, Dublin, Ireland Univ Dublin Trinity Coll, Genet, Dublin, Ireland
- [23] Variations in genotype-phenotype correlations in phenylketonuria patientsGENETICS AND MOLECULAR RESEARCH, 2010, 9 (01) : 1 - 8Santos, L. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, Brazil Univ Fed Sao Joao Del Rei, Divinopolis, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, BrazilFonseca, C. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, BrazilStarling, A. L. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Fac Med, NUPAD Nucleo Acoes & Pesquisa Apoio Diagnost, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, BrazilJanuario, J. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Fac Med, NUPAD Nucleo Acoes & Pesquisa Apoio Diagnost, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, BrazilAguiar, M. J. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Fac Med, NUPAD Nucleo Acoes & Pesquisa Apoio Diagnost, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, BrazilPeixoto, M. G. C. D.论文数: 0 引用数: 0 h-index: 0机构: Embrapa Gado Leite, Juiz De Fora, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, BrazilCarvalho, M. R. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, Belo Horizonte, MG, Brazil
- [24] Genotype-Phenotype Correlations in Patients with Hereditary AngioedemaJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (02) : AB383 - AB383Maia, Luana S. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilLeme Ferriani, Mariana Paes论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilNunes, Fernanda Leonel论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilFerraro, Maria Fernanda论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilDias, Marina Mendonca论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilSerpa, Faradiba Sarquis论文数: 0 引用数: 0 h-index: 0机构: Escola Super Ciencias Santa Casa Misericor Vitoria, Vitoria, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilMotta, Antonio Abilio论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Immunol & Allergy Div, Sao Paulo, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilValle, Solange Rodrigues论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Clementino Fraga Filho Univ Hosp, Rio De Janeiro, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilSilva, Wilson Araujo, Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilAragon, Davi Casale论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilSarti, Willy论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilArruda, Luisa Karla P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilMoreno, Adriana S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil
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Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainAguirre-Lamban, Jana论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainMartin-Merida, Inmaculada论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainIancu, Ionut-Florin论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainSwafiri, Saoud论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainLorda-Sanchez, Isabel论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainRodriguez-Pinilla, Elvira论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainJose Trujillo-Tiebas, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainJimenez-Rolando, Belen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Ophthalmol, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainCarreno, Ester论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Ophthalmol, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainMahillo-Fernandez, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Epidemiol, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain论文数: 引用数: h-index:机构:Corton, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainAvila-Fernandez, Almudena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainGarcia-Sandoval, Blanca论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Ophthalmol, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Inst Invest Sanitaria, Dept Genet, Fdn Jimenez Diaz Univ Hosp, Madrid, Spain
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