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Journal of Clinical Medicine|March 28, 2024
Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic ManagementPaola Borgia, Gianluca Piccolo, Andrea Santangelo, et al.Journal of Clinical Medicine|December 23, 2023
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1Noemi Brolatti, Federica Trucco, Marta Ferretti, et al.The Journal of Molecular Diagnostics : JMD|December 5, 2009
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatographyAnnalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, et al.The American Journal of Pathology|November 25, 2003
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseasesFederica Sotgia, Gloria Bonuccelli, Carlo Minetti, et al.The Journal of Clinical Endocrinology and Metabolism|November 9, 2004
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumorsFilomena Cetani, Elena Pardi, Simona Borsari, et al.Italian Journal of Pediatrics|November 17, 2017
Congenital myopathies: clinical phenotypes and new diagnostic toolsDenise Cassandrini, Rosanna Trovato, Anna Rubegni, et al.Experimental & Molecular Medicine|January 30, 2004
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibitionCristina Capanni, Patrizia Sabatelli, Elisabetta Mattioli, et al.Journal of Child Neurology|November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.Muscle & Nerve|September 25, 2003
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b geneClaudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.Pageof 20