Detalhe da pesquisa
1.
Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.
Pediatr Dev Pathol
; 26(2): 138-143, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515364
2.
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.
Ann Indian Acad Neurol
; 20(2): 164-165, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28615910