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American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.Plos One|June 26, 2019
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratti, Marika Pane, et al.Plos One|August 1, 2019
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratt, Marika Pane, et al.Brain : a Journal of Neurology|February 3, 2009
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1Joachim Schessl, Ana L Taratuto, Caroline Sewry, et al.American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, 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.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.Frontiers in Neurology|June 27, 2022
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-SeriesAndrea Santangelo, Emanuele Bartolini, Giulia Nuzzi, et al.Journal of Neurology|November 9, 2013
"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophyLorenza Magliano, Melania Patalano, Alessandra Sagliocchi, et al.Neuromuscular Disorders : NMD|March 7, 2017
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvementsAdele D'Amico, Michela Catteruccia, Giovanni Baranello, et al.Pageof 23