Detalhe da pesquisa
1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
2.
Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030818
3.
Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.
Hum Mol Genet
; 29(14): 2353-2364, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588888