Detalhe da pesquisa
1.
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Genes (Basel)
; 12(5)2021 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34066864
2.
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Mol Brain
; 14(1): 126, 2021 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399820