المؤلفون: A. C. Romeo, Raffaele Ferri, Carmelo Romano, Riccardo Polosa, Valerio Tomaselli, Fabio Cibella, Juliana Lundgren Rose, Sonja Rust, Margherita Ferrante, Filippo Caraci, Jonathan Belsey, M. Thangaraju, Daniela Saitta, Pietro Ferrara, E. Interlandi, Pietro Zuccarello

مصطلحات موضوعية: Research design, medicine.medical_specialty, education.field_of_study, business.industry, Public health, Population, Context (language use), Environmental health, Epidemiology, medicine, Seroprevalence, Prospective cohort study, education, business, Blood sampling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b44258cb1f80ba1bc9530f8680601c1dTest
https://doi.org/10.1101/2021.04.29.21256236Test

المؤلفون: TESTA, Francesco, ROSSI, Settimio, E. INTERLANDI, M. C. NAPOLITANO, G. VIRGILI, F. M. BANDELLO, SIMONELLI, Francesca

المساهمون: Testa, Francesco, Rossi, Settimio, E., Interlandi, M. C., Napolitano, G., Virgili, F. M., Bandello, Simonelli, Francesca

العلاقة: ispartofbook:Congresso Internazionale SOI; Congresso Internazionale SOI 2006; http://hdl.handle.net/11591/205995Test

الإتاحة: http://hdl.handle.net/11591/205995Test

المؤلفون: ROSSI, Settimio, TESTA, Francesco, E. INTERLANDI, A. NESTI, RINALDI, Michele, M. VARANO, C. GARRÈ, SIMONELLI, Francesca

المساهمون: Rossi, Settimio, Testa, Francesco, E., Interlandi, A., Nesti, Rinaldi, Michele, M., Varano, C., Garrè, Simonelli, Francesca

العلاقة: ispartofbook:Congresso Internazionale SOI; Congresso Internazionale SOI; http://hdl.handle.net/11591/215189Test

الإتاحة: http://hdl.handle.net/11591/215189Test

المؤلفون: ROSSI, Settimio, TESTA, Francesco, I. PASSERINI, V. DI IORIO, E. INTERLANDI, RINALDI, Michele, A. SODI, F. TORRICELLI, SIMONELLI, Francesca

المساهمون: Rossi, Settimio, Testa, Francesco, Passerini, I., DI IORIO, V., Interlandi, E., Rinaldi, Michele, Sodi, A., Torricelli, F., Simonelli, Francesca

العلاقة: ispartofbook:Invest. Ophthalmol. Vis. Sci. (ARVO); ARVO; firstpage:2926; numberofpages:2926; http://hdl.handle.net/11591/180104Test

الإتاحة: http://hdl.handle.net/11591/180104Test

المؤلفون: Francesco Testa, Ugo Menchini, Ernesto Rinaldi, Francesca Simonelli, Settimio Rossi, M. Della Corte, V. Di Iorio, E Interlandi, Ilaria Passerini, F. Torricelli, Andrea Sodi

المساهمون: Testa, Francesco, Rossi, Settimio, Passerini, I, Sodi, A, Di Iorio, V, Interlandi, E, Della Corte, M, Menchini, U, Rinaldi, E, Torricelli, F, Simonelli, Francesca

المصدر: The British journal of ophthalmology. 92(11)

مصطلحات موضوعية: Adult, Male, Genotype, Sequence analysis, Genetic Linkage, Eye disease, DNA Mutational Analysis, Mutation, Missense, Disease, Cellular and Molecular Neuroscience, Chloride Channels, medicine, Humans, Bestrophins, Child, Eye Proteins, Gene, Genetic testing, Genetics, Corneal Dystrophies, Hereditary, medicine.diagnostic_test, Transition (genetics), business.industry, BEST1 gene, medicine.disease, Phenotype, Sensory Systems, Pedigree, Ophthalmology, Electrooculography, Child, Preschool, Mutation (genetic algorithm), Best disease, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed5023a8f41e4ee6d827f650a077ff0Test
https://pubmed.ncbi.nlm.nih.gov/18703557Test

المؤلفون: E. Interlandi, Francesca Simonelli, M. Varano, Anna Nesti, Maria Michela Rinaldi, Valeria Marini, Cecilia Garrè, Francesco Testa, Settimio Rossi

المساهمون: Testa, Francesco, Marini, V, Rossi, Settimio, Interlandi, E, Nesti, A, Rinaldi, Michele, Varano, M, Garré, C, Simonelli, Francesca

مصطلحات موضوعية: Proband, Retinal degeneration, medicine.medical_specialty, Visual acuity, Letter, genetic structures, inherited dystrophies, Pattern dystrophy, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Ophthalmology, Medicine, Gene, Retina, Retinal pigment epithelium, business.industry, Retinal, Anatomy, medicine.disease, eye diseases, Sensory Systems, pattern dystrophy’’, medicine.anatomical_structure, chemistry, sense organs, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::187f0c8452b6e36d8d39a583ec790b25Test
https://europepmc.org/articles/PMC1772774Test/

المؤلفون: Carmela Ziviello, M Rinaldi, Francesco Testa, Sandro Banfi, V. Di Iorio, Francesca Simonelli, Settimio Rossi, E Interlandi, Alfredo Ciccodicola

المساهمون: Testa, Francesco, Ziviello, C., Rinaldi, Michele, Rossi, Settimio, DI IORIO, V., Interlandi, E., Ciccodicola, A., Banfi, Sandro, Simonelli, Francesca

المصدر: Europe PubMed Central
Scopus-Elsevier
European Journal of Ophthalmology (Testo stamp.) 16 (2006): 779–781.
info:cnr-pdr/source/autori:Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F/titolo:Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene./doi:/rivista:European Journal of Ophthalmology (Testo stamp.)/anno:2006/pagina_da:779/pagina_a:781/intervallo_pagine:779–781/volume:16

مصطلحات موضوعية: Male, P2301S mutation, Biology, Autosomal dominant retinitis pigmentosa, 03 medical and health sciences, PRPF8 gene, 0302 clinical medicine, Dna genetics, Electroretinography, Humans, A D R P, Clinical phenotype, Gene, Genetics, Point mutation, RNA-Binding Proteins, DNA, General Medicine, Phenotype, eye diseases, Pedigree, Ophthalmoscopy, Ophthalmology, Italy, Mutation, New mutation, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Female, Carrier Proteins, Retinitis Pigmentosa, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a90d26f18e0cdbc7fca5b6d5f2cd79Test
http://europepmc.org/abstract/med/17061239Test

المؤلفون: Pichi, Francesco, Fragiotta, Serena, Freund, K Bailey, Au, Adrian, Lembo, Andrea, Nucci, Paolo, Sebastiani, Stefano, Gutierrez Hernandez, Juan Carlos, Interlandi, Emanuela, Pellegrini, Francesco, Dolz-Marco, Rosa, Gallego-Pinazo, Roberto, Orellana-Rios, Jorge, Adatia, Feisal A., Munro, Monique, Abboud, Emad B., Ghazi, Nicola, Cunha Souza, Eduardo, Amer, Radgonde, Neri, Piergiorgio, Sarraf, David

المساهمون: F. Pichi, S. Fragiotta, K.B. Freund, A. Au, A. Lembo, P. Nucci, S. Sebastiani, J.C. Gutierrez Hernandez, E. Interlandi, F. Pellegrini, R. Dolz-Marco, R. Gallego-Pinazo, J. Orellana-Rio, F.A. Adatia, M. Munro, E.B. Abboud, N. Ghazi, E. Cunha Souza, R. Amer, P. Neri, D. Sarraf

مصطلحات موضوعية: imaging, macula, retina, Ophthalmology, Sensory System, Cellular and Molecular Neuroscience, Settore MED/30 - Malattie Apparato Visivo

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30257961; info:eu-repo/semantics/altIdentifier/wos/WOS:000478915300022; numberofpages:9; journal:BRITISH JOURNAL OF OPHTHALMOLOGY; http://hdl.handle.net/2434/605846Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054138180

الإتاحة: https://doi.org/10.1136/bjophthalmol-2018-312774Test
http://hdl.handle.net/2434/605846Test