المؤلفون: Massimiliano Chetta, Anna Basile, Marina Tarsitano, Maria Rivieccio, Maria Oro, Nazzareno Capitanio, Nenad Bukvic, Manuela Priolo, Alessandra Rosati

المصدر: Cancers, Vol 16, Iss 13, p 2389 (2024)

مصطلحات موضوعية: KRAS isoforms (KRAS4A, KRAS4B), sotorasib (AMG 510), p.G12C mutation, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/16/13/2389Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/855a9ba257e74640a916cc8391d4cf93Test

المؤلفون: Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Malan syndrome, Sotos syndrome 2, NFIX, Deep phenotyping, Overgrowth, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/771316b8f0a6460199ddcc00cf6d0b98Test

المؤلفون: Stefano Stagi, Vittorio Ferrari, Marta Ferrari, Manuela Priolo, Marco Tartaglia

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: Noonan syndrome, RASopathies, growth, puberty, growth hormone, cancer, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.951331/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/eed0e5f286724546b53b3ddcfacbf13bTest

المؤلفون: Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia

المصدر: Genes, Vol 13, Iss 11, p 2163 (2022)

مصطلحات موضوعية: DNA methylation, overgrowth, NSD1, Sotos syndrome, genomic variant classification, VoUS validation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/11/2163Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/67cdb4cb8d1440ceb0781962c37acde1Test

المؤلفون: Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Marco Tartaglia, Andrea Bartuli, Corrado Mammì, Stefano Vicari, Manuela Priolo

المصدر: Journal of Clinical Medicine, Vol 11, Iss 14, p 4078 (2022)

مصطلحات موضوعية: Malan Syndrome, NFIX variants, adaptive behavior, cognition, sensory processing, intellectual disability, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/14/4078Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/dedf75efd9b444288e0d1b1e16ceb1e8Test

المؤلفون: Manuela Priolo, Cecilia Mancini, Simone Pizzi, Luigi Chiriatti, Francesca Clementina Radio, Viviana Cordeddu, Letizia Pintomalli, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

المصدر: Genes, Vol 13, Iss 5, p 889 (2022)

مصطلحات موضوعية: HAFOUS, USP7, cystic fibrosis, CFTR, PKD2, dual molecular diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/5/889Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/524f9b3e1afa4726a9e3841899d55b1bTest

المؤلفون: Manuela Priolo, Francesca Clementina Radio, Simone Pizzi, Letizia Pintomalli, Francesca Pantaleoni, Cecilia Mancini, Viviana Cordeddu, Emilio Africa, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

المصدر: Genes, Vol 12, Iss 7, p 1009 (2021)

مصطلحات موضوعية: IDDSADF, CNOT3, facial features profiling, SMAD6, aortic coarctation, bicuspid aortic valve, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/7/1009Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/4c1425e50ffa4d63ac59d0e440105744Test

المؤلفون: Manuela Priolo, Marco Tartaglia

المصدر: International Journal of Environmental Research and Public Health; Volume 20; Issue 5; Pages: 4573

مصطلحات موضوعية: rare diseases, diagnosis, physician-patient relationship, diagnostic odyssey, diagnostic delay, orphan diseases, undiagnosed patients

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/ijerph20054573Test

الإتاحة: https://doi.org/10.3390/ijerph20054573Test

المؤلفون: Marialetizia Motta, Maja Solman, Adeline Alice Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne Kamphausen, Cécile Thomas-Teinturier, Anne Guimier MD15, Viviana Cordeddu, Laura Mazzanti, Giuseppe Zampino, Giovanni Chillemi, Martin Zenker, Hélène Cavé, Jeroen den Hertog, Marco Tartaglia.

المساهمون: Motta, Marialetizia, Solman, Maja, Alice Bonnard, Adeline, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne, Thomas-Teinturier, Cécile, Guimier MD15, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia., Marco

مصطلحات موضوعية: SHOC2, Noonan syndrome, RASopathy, MAPK, RAS signalling, functional validation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35348676; info:eu-repo/semantics/altIdentifier/wos/WOS:000787997700001; volume:31; issue:16; firstpage:2766; lastpage:2778; numberofpages:13; journal:HUMAN MOLECULAR GENETICS; https://hdl.handle.net/11573/1620615Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137124974

الإتاحة: https://doi.org/10.1093/hmg/ddac071Test
https://hdl.handle.net/11573/1620615Test

المؤلفون: Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia

المصدر: Human Molecular Genetics. 32:473-488

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce735168d1071ffa9c3db6983965726Test
https://doi.org/10.1093/hmg/ddac213Test