Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Isoforms of the TAL1 transcription factor have different roles in hematopoiesis and cell growth.
PLoS Biol
; 21(6): e3002175, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379322
3.
The spectrum of pre-mRNA splicing in autism.
Wiley Interdiscip Rev RNA
; 15(2): e1838, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509732
4.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
medRxiv
; 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425688