Publications by authors named "Maria C Cortes-Rojas"

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Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.
María Camila Cortés-Rojas, Ana María Zarante-Bahamón, Jorge Luis Ramón-Gómez

Mov Disord Clin Pract· September 2025

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A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2.
Ana M Zarante-Bahamon, María C Cortés-Rojas, Jorge L Ramon-Gómez

Clin Dysmorphol· July 2025

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Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.
Jorge Luis Ramon-Gomez, Maria Camila Cortés-Rojas, Maria Jose Polania-Puentes, Graciela Del Pilar Guerrero-Ruiz

Mov Disord Clin Pract· May 2024

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