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Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

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Title: Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Authors: 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.; Pediatric Clinic, Child Neurology Department, Clinical Center Nis, Nis, Serbia., Lucarelli E; Unit for Severe Disabilities in Developmental Age and Young Adults, Scientific Institute IRCCS Eugenio Medea, Brindisi, Italy., Panzeri E; Molecular Biology Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Chiapparini L; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pichiecchio A; Neuroradiology Unit, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili, Brescia, Italy., Righini A; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Leuzzi V; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy., Borgatti R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Valente EM; Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy. enzamaria.valente@unipv.it.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it.
Source: Cerebellum (London, England) [Cerebellum] 2022 Dec; Vol. 21 (6), pp. 1144-1150. Date of Electronic Publication: 2021 Nov 30.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
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  Data: <searchLink fieldCode="AU" term="%22D'Abrusco+F%22">D'Abrusco F</searchLink>; Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Arrigoni+F%22">Arrigoni F</searchLink>; Neuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Romaniello+R%22">Romaniello R</searchLink>; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Caputi+C%22">Caputi C</searchLink>; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Manti+F%22">Manti F</searchLink>; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Jocic-Jakubi+B%22">Jocic-Jakubi B</searchLink>; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; Pediatric Clinic, Child Neurology Department, Clinical Center Nis, Nis, Serbia.<br /><searchLink fieldCode="AU" term="%22Lucarelli+E%22">Lucarelli E</searchLink>; Unit for Severe Disabilities in Developmental Age and Young Adults, Scientific Institute IRCCS Eugenio Medea, Brindisi, Italy.<br /><searchLink fieldCode="AU" term="%22Panzeri+E%22">Panzeri E</searchLink>; Molecular Biology Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Bonaglia+MC%22">Bonaglia MC</searchLink>; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Chiapparini+L%22">Chiapparini L</searchLink>; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pichiecchio+A%22">Pichiecchio A</searchLink>; Neuroradiology Unit, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Pinelli+L%22">Pinelli L</searchLink>; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Righini+A%22">Righini A</searchLink>; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Leuzzi+V%22">Leuzzi V</searchLink>; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Borgatti+R%22">Borgatti R</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy. enzamaria.valente@unipv.it.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it.
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  Data: <searchLink fieldCode="JN" term="%22101089443%22">Cerebellum (London, England)</searchLink> [Cerebellum] 2022 Dec; Vol. 21 (6), pp. 1144-1150. <i>Date of Electronic Publication: </i>2021 Nov 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101089443 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-4230 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214734222%22">14734222 </searchLink><i>NLM ISO Abbreviation: </i>Cerebellum <i>Subsets: </i>MEDLINE
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