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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
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.
Afiliação
  • Macchiaiolo M; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy. marina.macchiaiolo@opbg.net.
  • Panfili FM; University of Rome Tor Vergata, Rome, Italy.
  • Vecchio D; Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Gonfiantini MV; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
  • Cortellessa F; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
  • Caciolo C; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
  • Zollino M; Child and Adolescent Psychiatric Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Accadia M; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Seri M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy.
  • Chinali M; Medical Genetics Service, Hospital "Cardinale G. Panico", Tricase, Lecce, Italy.
  • Mammì C; Unit of Medical Genetics, IRCCS Azienda Ospedaliero Universitaria di Bologna, Bologna, Italy.
  • Tartaglia M; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital IRCSS, Rome, Italy.
  • Bartuli A; Operative Unit of Medical Genetics, Bianchi-Melacrino-Morelli Hospital, V. Melacrino, 89100, Reggio Calabria, Italy.
  • Alfieri P; Genetics and Rare Disease Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Priolo M; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Orphanet J Rare Dis ; 17(1): 235, 2022 06 18.
Article em En | MEDLINE | ID: mdl-35717370
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article