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1دورية أكاديمية
المؤلفون: Vito Terlizzi, Marco Lucarelli, Donatello Salvatore, Adriano Angioni, Arianna Bisogno, Cesare Braggion, Roberto Buzzetti, Vincenzo Carnovale, Rosaria Casciaro, Giuseppe Castaldo, Natalia Cirilli, Mirella Collura, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Vincenzina Lucidi, Elisa Madarena, Rita Padoan, Serena Quattrucci, Valeria Raia, Manuela Seia, Lisa Termini, Federica Zarrilli
المصدر: BMC Pulmonary Medicine, Vol 18, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: CFTR, Genotype, Phenotype, Modifier genes, FEV1, Pseudomonas aeruginosa, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Annamaria Bevivino, Alessandra Coiana, Annalisa Fogazzi, Fabiana Timelli, Sandra Signorini, Marco Lucarelli, Patrizia Morelli, Rita Padoan, Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, Laura Minicucci, Giovanna Floridia, Gianna Puppo Fornaro, Domenica Taruscio, Marco Salvatore, Manuela Seia, Silvia Pierandrei, Giovanna Blaconà, Valentina Salvati, Giovanni Sette, Giuseppe Cimino, Federica Sangiuolo, Adriana Eramo, Mirella Collura, Elisa Parisi, Annalisa Ferlisi, Gabriella Traverso, Marcella Bertolino, Lisa Termini, Maria A. Orlando, Caterina Di Girgenti, Valeria Pavone, Maria A. Calamia, Maria G. Silvestro, Caterina Lo Piparo, Francesca Ficili, Carla Colombo, Elizabeth Tullis, Jane C. Davies, Charlotte McKee, Cynthia DeSouza, David Waltz, Jessica Savage, Marc Fisher, Rebecca Shilling, Sam Moskowitz, Sarah Robertson, Simon Tian, Jennifer L. Taylor-Cousar, Steven M. Rowe, Elisa Beccia, Annalucia Carbone, Maria Favia, Stefano Castellani, Antonella Angiolillo, Valeria Casavola, Massimo Conese, Bruno M. Cesana, Diego Falchetti, Fiorella Battistini, Elisabetta Bignamini, Cesare Braggion, Natalia Cirilli, Maria C. Lucanto, Vincenzina Lucidi, Antonio Manca, Valeria Raia, Novella Rotolo, Donatello Salvatore, Sonia Volpi, Erica Nazzari, Riccardo Guarise, Palmiro Mileto, Francesca Garbarino, Gianfranco Alicandro, Alberto Battezzati, Antonella M. Di Lullo, Marika Comegna, Felice Amato, Paola Iacotucci, Vincenzo Carnovale, Elena Cantone, Maurizio Iengo, Giuseppe Castaldo, Claudio Orlando, Alida Casale, Angela Sepe, Fabiola De Gregorio, Antonia De Matteo, Alice Castaldo, Chiara Cimbalo, Antonella Tosco, Daniela Savi, Michela Mordenti, Enea Bonci, Patrizia Troiani, Viviana D’Alù, Paolo Rossi, Monica Varchetta, Tamara Perelli, Serenella Bertasi, Paolo Palange, Lucia Tardino, Giuseppe F. Parisi, Anna Portale, Chiara Franzonello, Maria Papale, Salvatore Leonardi, Francesca Pennisi, Sabina M. Bruno, Giulia Licciardello, Giampiero Ferraguti, Manuela Sterrantino, Giancarlo Testino, Roberto Buzzetti, Cecilia Surace, Valentina M. Sofia, Nicola Ullmann, Antonio Novelli, Adriano Angioni, Renato Liguori, Francesca Manzoni, Chiara Di Palma, Sabrina Maietta, Federica Zarrilli, Vito Terlizzi, Federico Alghisi, Giuseppe Tuccio, Valentina Tradati, Eliana di Stefano, Patrizia Dato, Maria G. Sciarrabone, Carmela Fondacaro, Federico Cresta, Valentina Baglioni, Silvia Garuti, Isabella Buffoni, Francesca Landi, Rosaria Casciaro, Daniela Girelli, Antonio Teri, Samantha Sottotetti, Arianna Biffi, Chiara Vignati, Monica D’accico, Anna Maraschini, Milena Arghittu, Giovanna Pizzamiglio, Elisa Cariani, Daniela Dolce, Novella Ravenni, Silvia Campana, Erica Camera, Carlo Castellani, Giovanni Taccetti, Eleonora Calderone, Roberto Bandettini, Chiara Degli Innocenti, Chiara Castellani, Eleonora Masi, Maria Chiara Cavicchi, Beatrice Ferrari, Ramona Pezzotta, Piercarlo Poli, Serena Messali, Silvana Timpano, Erika Scaltriti, Stefano Pongolini, Simona Fiorentini, Silvia Bresci, Lorenzo Corsi, Beatrice Borchi, Annalisa Cavallo, Filippo Bartalesi, Massimo Pistolesi, Alessandro Bartoloni, Federica Arcoleo, Tiziana Pensabene, Giovanni Bacci, Federica Armanini, Ersilia V. Fiscarelli, Nicola Segata, Alessio Mengoni, Maria V. Di Toppa, Nicoleta Popa, Francesco Felicetti, Sonia Graziano, Riccardo Ciprandi, Rita Pescini, Guendalina Graffigna, Serena Barello, Paola Catastini, Salvatore De Masi, C. Braggion, Lucia Guarnuto, Emanuela Di Liberti, Valentina Patti, Massimo Luca Castellazzi, Valeria Daccò, Laura Claut, Matteo Giuliari, Luana Vicentini, Fausto Tilotta, Antonella Paciaroni, Sabino Della Sala, Cristina Guerzoni, Elisa Andreatta, Grazia Dinnella, Orazia M. Granata, Tommaso S. Aronica, Mimì Crapisi, Donatella Fogazza, Luca Alessi, Flavia Mulè, Marcello Vitaliti, Mariarosaria Maresi, Andrea Catzola, Laura Salvadori, Carmela Colangelo, Giovanni Marsicovetere, Michele D’Andria, Domenica Passarella, Carmela Genovese, Mari A. Orlando, Stefania Barrale, Maria R. Bonaccorso, Annalisa D’Arpa
المصدر: Italian Journal of Pediatrics, Vol 44, Iss S1, Pp 1-23 (2018)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem
المصدر: Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 828-830 (2019)
مصطلحات موضوعية: X-linked ichthyosis, female, high-throughput nucleotide sequencing, Dermatology, RL1-803
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: SILVIA STERPONE, TOMMASO CORNETTA, ADRIANO ANGIONI, ERSILIA FISCARELLI, VINCENZINA LUCIDI, ANTONELLA TESTA, RENATA COZZI
المصدر: Biological Research, Vol 42, Iss 4, Pp 477-486 (2009)
مصطلحات موضوعية: Comet assay, cystic fibrosis, DNA damage, genetic polymorphisms, modifier genes, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400009; https://doaj.org/toc/0716-9760; https://doaj.org/toc/0717-6287
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5دورية أكاديمية
المؤلفون: Antonella Conforti, Simone Biagini, Francesca Del Bufalo, Pietro Sirleto, Adriano Angioni, Nadia Starc, Giuseppina Li Pira, Francesca Moretta, Alessandra Proia, Benedetta Contoli, Silvia Genovese, Claudia Ciardi, Maria Antonietta Avanzini, Vittorio Rosti, Francesco Lo-Coco, Franco Locatelli, Maria Ester Bernardo
المصدر: PLoS ONE, Vol 8, Iss 11, p e76989 (2013)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Paolo Romania, Aurora Castellano, Cecilia Surace, Arianna Citti, Maria Antonietta De Ioris, Pietro Sirleto, Marilena De Mariano, Luca Longo, Renata Boldrini, Adriano Angioni, Franco Locatelli, Doriana Fruci
المصدر: PLoS ONE, Vol 8, Iss 10, p e78481 (2013)
وصف الملف: electronic resource
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7
المؤلفون: Massimo Negrini, Carlo M. Croce, Adriano Angioni, Patrizia Querzoli, Giovanni Lanza, Luigi Bolondi, Laura Gramantieri, Gemma D'Elia, Hansjuerg Alder, Nicola Zanesi, Francesca Fornari, Manuela Ferracin, Rosa Visone, Jessica Consiglio, Laura Lupini, Angelo Veronese
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b1d76bf73c13187344e087cd70cefcd
https://doi.org/10.1158/0008-5472.22386407 -
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المؤلفون: Renata Boldrini, Giovanna Zambruno, May El Hachem, Viola Alesi, Andrea Diociaiuti, Adriano Angioni, Maria Margollicci, Antonio Novelli, Elisa Pisaneschi
المصدر: Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 828-830 (2019)
مصطلحات موضوعية: Genetics, X-linked ichthyosis, Ichthyosis, business.industry, media_common.quotation_subject, Nonsense mutation, Nonsense, General Medicine, Dermatology, medicine.disease, DNA sequencing, female, RL1-803, Rare case, medicine, Girl, high-throughput nucleotide sequencing, business, Gene, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1272d384a218552a17b1098d2455b8fb
https://doaj.org/article/ab063084fde24753a9bf36cf044df4ce -
9
المؤلفون: Deny Menghini, Serena Russo, Stefano Vicari, Adriano Angioni, Viola Alesi, Laura Casula, Giovanni Valeri, Filomena Alessandra Amendola, Antonio Novelli, Eleonora Napoli
المصدر: Journal of Autism and Developmental Disorders. 48:442-449
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Autism Spectrum Disorder, behavioral disciplines and activities, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Developmental and Educational Psychology, medicine, Humans, Child, Clinical phenotype, Comparative Genomic Hybridization, Cognition, medicine.disease, Phenotype, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Autism, Female, Psychology, Clinical evaluation, 030217 neurology & neurosurgery
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10
المؤلفون: Giuseppe Castaldo, Ausilia Elce, Natalia Cirilli, Marika Comegna, Antonella Miriam Di Lullo, Manuela Scorza, Adriano Angioni, Valeria Raia, Paola Iacotucci, Valentina Maria Sofia, Anna Perfetti, Roberta Cimino, Rosaria Casciaro, Carla Colombo, Felice Amato, Vincenzo Carnovale, Vincenzina Lucidi, Manuela Seia, Donatello Salvatore, Marco Lucarelli, Vito Terlizzi, Serena Quattrucci, Federica Zarrilli
المساهمون: Terlizzi, Vito, Castaldo, Giuseppe, Salvatore, Donatello, Lucarelli, Marco, Raia, Valeria, Angioni, Adriano, Carnovale, Vincenzo, Cirilli, Natalia, Casciaro, Rosaria, Colombo, Carla, DI LULLO, ANTONELLA MIRIAM, Elce, Ausilia, Iacotucci, Paola, Comegna, Marika, Scorza, Manuela, Lucidi, Vincenzina, Perfetti, Anna, Cimino, Roberta, Quattrucci, Serena, Seia, Manuela, Sofia, Valentina Maria, Zarrilli, Federica, Amato, Felice
المصدر: Journal of Medical Genetics. 54:224-235
مصطلحات موضوعية: Male, 0301 basic medicine, Cystic Fibrosis, [L997F, Cystic Fibrosis Transmembrane Conductance Regulator, Compound heterozygosity, medicine.disease_cause, Cystic fibrosis, nasal brushing, 0302 clinical medicine, Genotype, [I148T, 3199del6bp], R117L], [R74W, V201M, D1270N], gating activity, Child, Genetics (clinical), Mutation, Homozygote, Middle Aged, Cystic fibrosis transmembrane conductance regulator, Phenotype, Child, Preschool, Female, cystic fibrosis, genotype phenotype correlation, CFTR mutations, complex alleles, functional characterization, gating activity, chloride transport, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Biology, Young Adult, 03 medical and health sciences, Molecular genetics, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, Heterozygote advantage, medicine.disease, Molecular biology, digestive system diseases, Nasal Mucosa, 030104 developmental biology, 030228 respiratory system, Immunology, biology.protein