Detalhe da pesquisa
1.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Proc Natl Acad Sci U S A
; 121(9): e2322582121, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381787
2.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
3.
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
; 188(10): 3089-3095, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946377
4.
Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer.
J Cell Mol Med
; 24(1): 418-430, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730267