Items where Author is "Alves, C."
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Article
(2025) Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements. Genetics in Medicine. p. 17. ISSN 1098-3600
(2025) ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genetics in Medicine. p. 15. ISSN 1098-3600