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Journal of Inherited Metabolic Disease|September 8, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International NetworkMichio Hirano, Valerio Carelli, Roberto De Giorgio, et al.
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
Alzheimer'S Research & Therapy|August 18, 2022
Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB 1.0): development and normative dataFrancesca Conca, Valentina Esposito, Francesco Rundo, et al.
Frontiers in Neurology|May 2, 2022
Quantitative MRI Harmonization to Maximize Clinical Impact: The RIN-Neuroimaging NetworkAnna Nigri, Stefania Ferraro, Claudia A M Gandini Wheeler-Kingshott, et al.
IEEE Journal of Biomedical and Health Informatics|August 27, 2024
Medical Information Extraction With NLP-Powered QABots: A Real-World ScenarioClaudio Crema, Federico Verde, Pietro Tiraboschi, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
Radiology|March 10, 2026
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine LearningGiuseppe Pontillo, Simone Penna, Filippo Arrigoni, et al.
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