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AJNR. American Journal of Neuroradiology|September 29, 2025
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial DysfunctionDiego Cardoso Fragoso, Eiman Al-Ajmi, Agustin M Cardenas, et al.
Pediatric Radiology|April 27, 2021
Imaging findings of multisystem inflammatory syndrome in children associated with COVID-19Pablo Caro-Domínguez, María Navallas, Lucia Riaza-Martin, et al.
Journal of the American Society of Nephrology : JASN|December 16, 2017
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Sven Enerbäck, Daniel Nilsson, Noel Edwards, et al.
AJNR. American Journal of Neuroradiology|August 15, 2024
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical DevelopmentBar Neeman, Sniya Sudhakar, Asthik Biswas, et al.
AJNR. American Journal of Neuroradiology|October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric StudyLudovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.
NPJ Genomic Medicine|May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
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