Detalhe da pesquisa
1.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
2.
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.
Mol Genet Metab
; 100(2): 207-12, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20226704