Detalhe da pesquisa
1.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37451268
2.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36018820
3.
Regulation of the apical extension morphogenesis tunes the mechanosensory response of microvilliated neurons.
PLoS Biol
; 17(4): e3000235, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31002663
4.
Apoptosis and cell proliferation during metamorphosis of the planula larva of Clytia hemisphaerica (Hydrozoa, Cnidaria).
Dev Dyn
; 250(12): 1739-1758, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34036636
5.
Precise mutagenesis in zebrafish using cytosine base editors.
Nat Protoc
; 18(9): 2794-2813, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37495752
6.
Disease modeling by efficient genome editing using a near PAM-less base editor in vivo.
Nat Commun
; 13(1): 3435, 2022 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35701478
7.
A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.
Sci Rep
; 12(1): 22597, 2022 12 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36585409
8.
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
Nat Commun
; 13(1): 6618, 2022 11 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36333351
9.
Precise base editing for the in vivo study of developmental signaling and human pathologies in zebrafish.
Elife
; 102021 02 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33576334
10.
Zebrafish as a Model for the Study of Live in vivo Processive Transport in Neurons.
Front Cell Dev Biol
; 7: 17, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30838208