Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Int J Mol Sci
; 24(7)2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047546
3.
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
Int J Mol Sci
; 23(6)2022 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328596
4.
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.
J Cyst Fibros
; 22(3): 525-537, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543707