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Stem Cells and Development|November 18, 2015
Modeling Andersen's Syndrome in Human Induced Pluripotent Stem CellsJonathan Pini, Matthieu Rouleau, Claude Desnuelle, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 30, 2018
Osteogenic and Chondrogenic Master Genes Expression Is Dependent on the Kir2.1 Potassium Channel Through the Bone Morphogenetic Protein PathwayJonathan Pini, Serena Giuliano, Julia Matonti, et al.
EMBO Molecular Medicine|September 11, 2020
ALX1-related frontonasal dysplasia results from defective neural crest cell development and migrationJonathan Pini, Janina Kueper, Yiyuan David Hu, et al.
Annals of Clinical and Translational Neurology|October 8, 2025
Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal AnalysesJonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, et al.
European Journal of Human Genetics : EJHG|January 8, 2025
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type IAngela Puma, Giulia Tammam, Andra Ezaru, et al.
European Journal of Neurology|January 16, 2026
Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of LiteratureGiulia Tammam, Luisa Villa, Richard J L F Lemmers, et al.
Journal of Neuromuscular Diseases|August 30, 2021
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular DystrophyMarilyn Gros, Andreia M Nunes, Douglas Daoudlarian, et al.
Orphanet Journal of Rare Diseases|March 12, 2025
Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable dataAbderhmane Slioui, Giulia Tammam, Fiammetta Vanoli, et al.
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