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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri, Valentina; Mortarini, Giulia; Loucks, Hailey; Biagini, Tommaso; Micalizzi, Alessia; Palmieri, Ilaria; Dempsey, Jennifer C; D'Abrusco, Fulvio; Mazzotta, Concetta; Battini, Roberta; Bertini, Enrico Silvio; Boltshauser, Eugen; Borgatti, Renato; Brockmann, Knut; D'Arrigo, Stefano; Nardocci, Nardo; Fischetto, Rita; Agolini, Emanuele; Novelli, Antonio; Romano, Alfonso; Romaniello, Romina; Stanzial, Franco; Signorini, Sabrina; Strisciuglio, Pietro; Gana, Simone; Mazza, Tommaso; Doherty, Dan; Valente, Enza Maria.
Afiliación
  • Serpieri V; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Mortarini G; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Loucks H; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Biagini T; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.
  • Micalizzi A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Palmieri I; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Mazzotta C; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Battini R; Department of Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Bertini ES; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Boltshauser E; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Borgatti R; Departement of Pediatric Neurology, University Children's Hospital Zürich, Zurich, Switzerland.
  • Brockmann K; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • D'Arrigo S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Nardocci N; Interdisciplinary Pediatric Centre for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Centre, Georg August University, Göttingen, Germany.
  • Fischetto R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico "C Besta", Milan, Italy.
  • Agolini E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico "C Besta", Milan, Italy.
  • Novelli A; Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, Bari, Italy.
  • Romano A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Romaniello R; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Stanzial F; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, Italy.
  • Signorini S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Strisciuglio P; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bozen, Bozen, Italy.
  • Gana S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Mazza T; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, Italy.
  • Doherty D; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Valente EM; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.
J Med Genet ; 60(9): 885-893, 2023 09.
Article en En | MEDLINE | ID: mdl-36788019
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Texto completo: 1 Colección: 01-internacional Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia