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Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
D'Abrusco, Fulvio; Arrigoni, Filippo; Serpieri, Valentina; Romaniello, Romina; Caputi, Caterina; Manti, Filippo; Jocic-Jakubi, Bosanka; Lucarelli, Elisabetta; Panzeri, Elena; Bonaglia, Maria Clara; Chiapparini, Luisa; Pichiecchio, Anna; Pinelli, Lorenzo; Righini, Andrea; Leuzzi, Vincenzo; Borgatti, Renato; Valente, Enza Maria.
Afiliación
  • D'Abrusco F; Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.
  • Arrigoni F; Neuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Serpieri V; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
  • Romaniello R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Caputi C; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy.
  • Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy.
  • Jocic-Jakubi B; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Lucarelli E; Pediatric Clinic, Child Neurology Department, Clinical Center Nis, Nis, Serbia.
  • Panzeri E; Unit for Severe Disabilities in Developmental Age and Young Adults, Scientific Institute IRCCS Eugenio Medea, Brindisi, Italy.
  • Bonaglia MC; Molecular Biology Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Chiapparini L; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Pichiecchio A; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pinelli L; Neuroradiology Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Righini A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Leuzzi V; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili, Brescia, Italy.
  • Borgatti R; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.
  • Valente EM; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy.
Cerebellum ; 21(6): 1144-1150, 2022 Dec.
Article en En | MEDLINE | ID: mdl-34846692
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos