Detalhe da pesquisa
1.
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Am J Hum Genet
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38866022
2.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469793
3.
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]. / Protéasomopathies neurodéveloppementales : une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome.
Med Sci (Paris)
; 40(2): 176-185, 2024 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-38411426