Detalhe da pesquisa
1.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Hum Genet
; 139(4): 483-498, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055997
2.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992
3.
Germline AGO2 mutations impair RNA interference and human neurological development.
Nat Commun
; 11(1): 5797, 2020 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199684
4.
Dysfunction of the MDM2/p53 axis is linked to premature aging.
J Clin Invest
; 127(10): 3598-3608, 2017 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28846075