Detalhe da pesquisa
1.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34675124
2.
Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines.
PLoS One
; 17(12): e0266433, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36580465