Detalhe da pesquisa
1.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
2.
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Eur J Hum Genet
; 31(10): 1190-1194, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558808
3.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Neurol Genet
; 7(6): e631, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703884