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المؤلفون: Sandro Pignata, Giovanni Scambia, Clorinda Schettino, Laura Arenare, Carmela Pisano, Davide Lombardi, Ugo De Giorgi, Claudia Andreetta, Saverio Cinieri, Carmine De Angelis, Domenico Priolo, Claudia Casanova, Marta Rosati, Filippo Greco, Elena Zafarana, Ilaria Schiavetto, Serafina Mammoliti, Sabrina Chiara Cecere, Vanda Salutari, Simona Scalone, Alberto Farolfi, Marilena Di Napoli, Domenica Lorusso, Piera Gargiulo, Daniela Califano, Daniela Russo, Anna Spina, Rossella De Cecio, Paolo Chiodini, Francesco Perrone, Valentina Accinno, Chiara Altavilla, Giovanna Antonelli, Grazia Artioli, Francesco Avola, Bonifacio Barbara, Valentina Barbato, Michele Bartoletti, Simona Bevilacqua, Roberto Bordonaro, Oriana Borghese, Gaetano Buonfanti, Floriana Camarda, Giuliana Canzanella, Vittoria Carbone, Maria Rita Carbone, Giulia Carlo Stella, Chiara Cassani, Fabrizio Castagna, Monica Cattaneo, Margherita Cinefra, Nicoletta Colombo, Serena Corsetti, Monia Dall'Agata, Maria D'Amico, Gennaro Daniele, Elvira De Marino, Giovanni De Matteis, Sabino De Placido, Gabriella Del Bene, Antonia Del Giudice, Francesca Del Monte, Michele Del Sesto, Maddalena Donini, Giuliana Drudi, Gianluca Falcone, Adolfo Favaretto, Giulia Ferrera, Manuela Florio, Valeria Forestieri, Maria Stella Gallo, Ciro Gallo, Francesca Garibaldi, Fabiana Gerevini, Viola Ghizzoni, Maria Olga Giganti, Anna Gimigliano, Elena Giudice, Nicoletta Gnocchi, Adriano Gravina, Stefano Greggi, Maria Laura Iaia, Annalisa Ilardi, Gelsomina Iovine, Gabriella Ippoliti, Giulia Irollo, Ilenia Isidori, Mariateresa Lapresa, Giuseppe Lavenia, Laura Longhitano, Bortot Lucia, Gabriella Luzi, Sara Mariano, Valentina Marino, Giovanna Marrapese, Marilena Martino, Roberta Matocci, Enrica Mazzoni, Daniela Mercuri, Maria Mirto, Giovanna Mollo, Abbondanza Montinaro, Marta Moscatelli, Anna Maria Mosconi, Lucia Musacchio, Nicoletta Nanni, Pamela Natalucci, Milena Sabrina Nicoloso, Michele Orditura, Gabriella Maria Parma, Rodolfo Passalacqua, Michela Pelone, Maria Teresa Perri, Bruno Perrucci, Alessandra Piancastelli, Maria Carmela Piccirillo, Antonio Piccolo, Stefania Rapisardi, Giorgia Ravaglia, Teresa Ribecco, Caterina Ricci, Marianna Roccio, Fiorella Romano, Daniela Sambataro, Alfonso Savio, Ada Sbriglia, Cono Scaffa, Concetta Sergi, Francesca Sgandurra, Roberto Sorio, Stefano Stabile, Gianna Tabaro, Margherita Tambaro, Stefano Tamberi, Angelica Tecchiato, Angela Maria Trujillo, Eleonora Zaccarelli
المساهمون: Pignata, S, Scambia, G, Schettino, C, Arenare, L, Pisano, C, Lombardi, D, De Giorgi, U, Andreetta, C, Cinieri, S, De Angelis, C, Priolo, D, Casanova, C, Rosati, M, Greco, F, Zafarana, E, Schiavetto, I, Mammoliti, S, Cecere, S, Salutari, V, Scalone, S, Farolfi, A, Di Napoli, M, Lorusso, D, Gargiulo, P, Califano, D, Russo, D, Spina, A, De Cecio, R, Chiodini, P, Perrone, F, Accinno, V, Altavilla, C, Antonelli, G, Artioli, G, Avola, F, Barbara, B, Barbato, V, Bartoletti, M, Bevilacqua, S, Bordonaro, R, Borghese, O, Buonfanti, G, Camarda, F, Canzanella, G, Carbone, V, Carbone, M, Carlo Stella, G, Cassani, C, Castagna, F, Cattaneo, M, Cinefra, M, Colombo, N, Corsetti, S, Dall'Agata, M, D'Amico, M, Daniele, G, De Marino, E, De Matteis, G, De Placido, S, Del Bene, G, Del Giudice, A, Del Monte, F, Del Sesto, M, Donini, M, Drudi, G, Falcone, G, Favaretto, A, Ferrera, G, Florio, M, Forestieri, V, Gallo, M, Gallo, C, Garibaldi, F, Gerevini, F, Ghizzoni, V, Giganti, M, Gimigliano, A, Giudice, E, Gnocchi, N, Gravina, A, Greggi, S, Iaia, M, Ilardi, A, Iovine, G, Ippoliti, G, Irollo, G, Isidori, I, Lapresa, M, Lavenia, G, Longhitano, L, Lucia, B, Luzi, G, Mariano, S, Marino, V, Marrapese, G, Martino, M, Matocci, R, Mazzoni, E, Mercuri, D, Mirto, M
المصدر: The Lancet Oncology. 24:286-296
مصطلحات موضوعية: Oncology, Carboplatin
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2431afb32030e7d11f084ebe105f6204Test
https://doi.org/10.1016/s1470-2045Test(23)00016-5 -
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المؤلفون: Guido Pennoni, Ilenia Isidori, Valeria Mencarini, Amedea Mencarelli, Paolo Prontera, Giuseppe Di Cara, Gabriela Stangoni, Alberto Verrotti
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, 2184insA, Cystic fibrosis, Genetic testing, Genotype-phenotype correlation, Regional survey, Umbria, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, Disclosure, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Older patients, Surveys and Questionnaires, medicine, Humans, Allele, Child, Alleles, Genetics (clinical), Retrospective Studies, Genetics, medicine.diagnostic_test, business.industry, Public Health, Environmental and Occupational Health, Middle Aged, medicine.disease, Health Surveys, Phenotype, 030104 developmental biology, Italy, 030228 respiratory system, Child, Preschool, Mutation, Female, Allelic heterogeneity, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90755edfcb0f94f606f0ba41a0d315dTest
http://hdl.handle.net/11391/1388827Test -
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المؤلفون: Ilenia Isidori, Giuseppe Merla, Daniela Rogaia, Amedea Mencarelli, Paolo Prontera, Natascia Malerba, Valentina Ottaviani, Dario Cocciadiferro, Pfundt Rolph, Gabriela Stangoni, Anneke T. Vulto-van Silfhout
المساهمون: Prontera, P, Ottaviani, V, Rogaia, D, Isidori, I, Mencarelli, A, Malerba, N, Cocciadiferro, D, Rolph, P, Stangoni, G, Vulto-vanSilfhout, A, Merla, G
المصدر: American Journal of Medical Genetics. Part A, 170, 2377-82
American Journal of Medical Genetics. Part A, 170, 9, pp. 2377-82مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Genotype, Mutation, Missense, Biology, MED12, Frameshift mutation, 03 medical and health sciences, Lujan–Fryns syndrome, Polymorphism (computer science), Genetics, medicine, Humans, Amino Acid Sequence, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Aged, Comparative Genomic Hybridization, Mediator Complex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Brain, Facies, Heterozygote advantage, medicine.disease, Magnetic Resonance Imaging, Phenotype, 030104 developmental biology, Mutation, Mutation (genetic algorithm), Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb4fcaddda452efc8c3376264aeab7cTest
http://hdl.handle.net/2066/167762Test -
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المؤلفون: Vita Dolzan, Chee-Seng Ku, Paolo Prontera, Paolo Fortina, Alessio Squassina, Angela Brand, Fahd Al-Mulla, Manousos E. Kambouris, Domenica Taruscio, Jennifer Livaudais-Toman, Valeria Mencarini, Rena J. Pasick, Jack Chang, Leah S. Karliner, Milan Macek, Lada Leyens, Susan L. Stewart, Satz Mengensatzproduktion, Alberto Verrotti, David Neil Cooper, Ann Dozier, Barbara Prainsack, Marc S. Williams, Giuseppe Di Cara, Dongmei Li, Robin Lee, Susan W. Groth, Amedea Mencarelli, Effy Vayena, Margaret Demment, George P. Patrinos, Ming Ta Michael Lee, Gabriela Stangoni, Celia P. Kaplan, Athanassios Vozikis, Galen Joseph, Ron H.N. van Schaik, Ilenia Isidori, Federico Innocenti, I. Diana Fernandez, Timothy D. Dye, Christina Mitropoulou, Druckerei Stückle, Guido Pennoni
المصدر: Public Health Genomics. 19
مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b24868a62d9e3875ddb47607679e7f1cTest
https://doi.org/10.1159/000454906Test -
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المؤلفون: Paolo Prontera, Carmela Ardisia, G. Guercini, A. Bartocci, Emilio Donti, Amedea Mencarelli, Daniela Rogaia, Valentina Ottaviani, Ilenia Isidori
مصطلحات موضوعية: Genetics, Proband, Chromosomal translocation, Case Report, Biology, medicine.disease, Corpus callosum, Aicardi syndrome, Neurodevelopmental disorder, Agenesis, Gene duplication, Mutation (genetic algorithm), medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebe881ae49a89cdf375492f031af7feTest
https://europepmc.org/articles/PMC3666458Test/ -
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المصدر: Annals of neurology. 72(5)
مصطلحات موضوعية: Male, Chromosomes, Human, X, Neurology, Child Development Disorders, Pervasive, Developmental Disabilities, Gene duplication, MEDLINE, Humans, Female, Genetic Diseases, X-Linked, Neurology (clinical), Biology, Bioinformatics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a9471cce35c29ff6d48b6074f67aaeTest
https://pubmed.ncbi.nlm.nih.gov/22213401Test -
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المؤلفون: Emilio Donti, Paolo Prontera, Adriana Carando, Margherita Silengo, Ilenia Isidori, Amedea Mencarelli, Emanuela Garelli
المصدر: American journal of medical genetics. Part A. (11)
مصطلحات موضوعية: Male, DNA Mutational Analysis, medicine.disease_cause, acro-dermato-ungual-lacrimal-tooth syndrome, Ectodermal Dysplasia, Medicine, limb-mammary syndrome, Breast, Genetics (clinical), EEC, ADULT, ectrodactyly-ectodermal dysplasia-cleft lip/palate, LMS, TP63, cleft palate, phenotypic variability, ELA syndrome, ADULTectrodactyly-ectodermal dysplasia-cleft lip/palate, Mutation, medicine.diagnostic_test, Anatomy, Phenotype, Acro–dermato–ungual–lacrimal–tooth syndrome, Cleft Palate, Adult, medicine.medical_specialty, Heterozygote, Cleft Lip, Limb Deformities, Congenital, Nails, Malformed, Limb–mammary syndrome, Intellectual Disability, Lacrimal Duct Obstruction, Genetics, Humans, Abbreviations as Topic, Genetic Testing, Genetic testing, Anodontia, business.industry, Tumor Suppressor Proteins, Heterozygote advantage, medicine.disease, Dermatology, stomatognathic diseases, Syndactyly, Differential diagnosis, business, Pigmentation Disorders, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b1120c9cfa747c70ff0c2ca05a36b20Test
https://pubmed.ncbi.nlm.nih.gov/21990121Test