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Iranian Journal of Allergy, Asthma, and Immunology|May 11, 2026
The Value of Anti-Drug Antibody Detection in Discriminating Patients from Healthy Controls and Predicting the Gross Motor Functional State in Patients with Pompe DiseaseSolmaz Aziz-Ahari, Mahdi Aminian, Aliasghar Rahimian, et al.
Brain Communications|October 10, 2025
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
Journal of Neuromuscular Diseases|February 19, 2025
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world dataMahmoud Reza Ashrafi, Marzieh Babaee, Seyed Saeed Hashemi Nazari, et al.
Journal of Neuromuscular Diseases|February 13, 2023
The First Report of Iranian Registry of Patients with Spinal Muscular AtrophyVahid Mansouri, Morteza Heidari, Maryam Bemanalizadeh, et al.
Neurogenetics|August 19, 2023
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy RegistryMahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
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