Detalhe da pesquisa
1.
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
J Peripher Nerv Syst
; 25(2): 112-116, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077159
2.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol
; 262(9): 2124-34, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26100331