Detalhe da pesquisa
1.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
2.
CSMD1 regulates brain complement activity and circuit development.
Brain Behav Immun
; 119: 317-332, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552925
3.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406