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Orphanet Journal of Rare Diseases|June 14, 2017
International physician survey on management of FOP: a modified Delphi studyMaja Di Rocco, Genevieve Baujat, Marta Bertamino, et al.International Journal of Molecular Sciences|January 11, 2022
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia PatientsRoberta Resaz, Davide Cangelosi, Daniela Segalerba, et al.Muscle & Nerve|September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changesAnna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.Orphanet Journal of Rare Diseases|May 25, 2019
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypesRobert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.Orphanet Journal of Rare Diseases|May 5, 2019
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypesRobert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.Nature Genetics|December 14, 2011
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndromeCarine Le Goff, Clémentine Mahaut, Avinash Abhyankar, et al.Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.Archives of Neurology|September 14, 2011
Hypomyelination and congenital cataract: broadening the clinical phenotypeRoberta Biancheri, Federico Zara, Andrea Rossi, et al.Cerebellum (London, England)|February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.Pageof 14