Detalhe da pesquisa
1.
Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.
BMC Pediatr
; 23(1): 353, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443020
2.
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
J Med Genet
; 45(3): 129-33, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17954552