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European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
Investigative Ophthalmology & Visual Science|February 7, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History StudyFrancesco Testa, Vittoria Murro, Sabrina Signorini, et al.
Children (Basel, Switzerland)|May 27, 2026
Multicenter Study on Communication, Language and Speech in Italian Children with Cerebral Palsy-Survey, Assessement Protocols and Proposal for a Classification SystemElisa Granocchio, Claudia Maggiulli, Luca Andreoli, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Journal of Medical Genetics|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
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