Detalhe da pesquisa
1.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33473207
2.
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Brain Sci
; 8(8)2018 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30087272