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American Journal of Medical Genetics. Part A|August 18, 2016
Cognitive, adaptive, and behavioral features in Joubert syndromeSara Bulgheroni, Stefano D'Arrigo, Sabrina Signorini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 8, 2007
Neurodevelopmental evolution of West syndrome: a 2-year prospective studyFrancesco Guzzetta, Giovanni Cioni, Eugenio Mercuri, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
Epilepsia|July 3, 2004
Visual function in infants with West syndrome: correlation with EEG patternsTeresa Randò, Adina Bancale, Giovanni Baranello, et al.
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
Investigative Ophthalmology & Visual Science|September 24, 2010
Molecular and clinical characterization of albinism in a large cohort of Italian patientsAnnagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
AJNR. American Journal of Neuroradiology|October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric StudyLudovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
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