Role of CAMK2D in neurodevelopment and associated conditions
Source
The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
Source
Heliyon - ISSN 2405-8440-10:1 (2024) p. 1-5
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum
Source
American journal of medical genetics : part A - ISSN 1552-4825-191:9 (2023) p. 2451-2453
ADA2 deficiency mimicking acute disseminated encephalomyelitis
Source
Journal of clinical immunology - ISSN 0271-9142-43 (2023) p. 536-539
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Source
Molecular psychiatry - ISSN 1359-4184-28 (2023) p. 668-697