Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Panfili, Filippo M."'
Autor:
Vecchio, Davide, Macchiaiolo, Marina, Gonfiantini, Michaela V., Panfili, Filippo M., Petrizzelli, Francesco, Liorni, Niccolò, Cortellessa, Fabiana, Sinibaldi, Lorenzo, Rana, Ippolita, Agolini, Emanuele, Cocciadiferro, Dario, Colantoni, Nicole, Semeraro, Michela, Rizzo, Cristiano, Deodati, Annalisa, Cotugno, Nicola, Caggiano, Serena, Verrillo, Elisabetta, Nucci, Carlotta G., Alkan, Serpil
Publikováno v:
Frontiers in Genetics; 2024, p1-16, 16p
Autor:
Macchiaiolo, Marina1 (AUTHOR) marina.macchiaiolo@opbg.net, Panfili, Filippo M.2,3 (AUTHOR), Vecchio, Davide1 (AUTHOR), Gonfiantini, Michaela V.1 (AUTHOR), Cortellessa, Fabiana1 (AUTHOR), Caciolo, Cristina4 (AUTHOR), Zollino, Marcella5,6 (AUTHOR), Accadia, Maria7 (AUTHOR), Seri, Marco8 (AUTHOR), Chinali, Marcello9 (AUTHOR), Mammì, Corrado10 (AUTHOR), Tartaglia, Marco11 (AUTHOR), Bartuli, Andrea1 (AUTHOR), Alfieri, Paolo4 (AUTHOR), Priolo, Manuela10 (AUTHOR) prioloma@libero.it
Publikováno v:
Orphanet Journal of Rare Diseases. 6/18/2022, Vol. 17 Issue 1, p1-16. 16p.
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Gonfiantini, Michaela V., Cortellessa, Fabiana, Caciolo, Cristina, Zollino, Marcella, Accadia, Maria, Seri, Marco, Chinali, Marcello, Mammì, Corrado, Tartaglia, Marco, Bartuli, Andrea, Alfieri, Paolo, Priolo, Manuela
Additional file 1. Supplementary figures and tables.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6358030a7abcbca691d8b7befa0b17e3
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases. 17
Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical information
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff37bcdce2af39ca0723eae70689851
https://doi.org/10.1186/s13023-022-02384-9
https://doi.org/10.1186/s13023-022-02384-9
Autor:
Vecchio D; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy. Electronic address: davide.vecchio@opbg.net., Panfili FM; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Macchiaiolo M; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Dentici ML; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Trivisano M; Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Medina CB; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Capolino R; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Salzano E; Medical Genetics Unit, Department of Genetics, Oncohaematology and Rare Diseases, AOOR Villa Sofia-Cervello, Palermo, Italy., Cortellessa F; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Busè M; Medical Genetics Unit, Department of Genetics, Oncohaematology and Rare Diseases, AOOR Villa Sofia-Cervello, Palermo, Italy., Pantaleo A; Medical Genetics Unit, Department of Genetics, Oncohaematology and Rare Diseases, AOOR Villa Sofia-Cervello, Palermo, Italy., Cocciadiferro D; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Gonfiantini MV; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., De Dominicis A; Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Specchio N; Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Piccione M; Medical Genetics Unit, Department of Genetics, Oncohaematology and Rare Diseases, AOOR Villa Sofia-Cervello, Palermo, Italy; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Digilio MC; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Dec 19; Vol. 73, pp. 104990. Date of Electronic Publication: 2024 Dec 19.