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Journal of Pediatric Gastroenterology and Nutrition|July 24, 2019
The Role of Distress and Pain Catastrophizing on the Health-related Quality of Life of Children With Inflammatory Bowel DiseaseChiara De Carlo, Matteo Bramuzzo, Claudia Canaletti, et al.Muscle & Nerve|January 17, 2012
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotypeJuliana Gurgel-Giannetti, Adriano S Senkevics, Dinorah Zilbersztajn-Gotlieb, et al.Human Genetics|December 13, 2005
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophyMaria Manuela O Tonini, Richard J L F Lemmers, Rita C M Pavanello, et al.Neurogastroenterology and Motility|May 27, 2015
Esophagogastric junction morphology is associated with a positive impedance-pH monitoring in patients with GERDS Tolone, C de Cassan, N de Bortoli, et al.Proceedings of the National Academy of Sciences of the United States of America|April 3, 2009
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriersPatricia Arashiro, Iris Eisenberg, Alvin T Kho, et al.BMC Research Notes|August 3, 2014
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportThais Cuperman, Stephanie A Fernandes, Naila C V Lourenço, et al.JCI Insight|May 4, 2018
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomersEugene J Wyatt, Alexis R Demonbreun, Ellis Y Kim, et al.Frontiers in Genetics|June 21, 2018
Complexity of the 5' Untranslated Region of <i>EIF4A3</i>, a Critical Factor for Craniofacial and Neural DevelopmentGabriella S P Hsia, Camila M Musso, Lucas Alvizi, et al.Investigative Ophthalmology & Visual Science|July 9, 2016
Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human RetinaMirella Telles Salgueiro Barboni, Cristiane Maria Gomes Martins, Balázs Vince Nagy, et al.Disease Models & Mechanisms|December 13, 2019
Altered <i>in vitro</i> muscle differentiation in X-linked myopathy with excessive autophagyStephanie A Fernandes, Camila F Almeida, Lucas S Souza, et al.Pageof 12