Detalhe da pesquisa
1.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
2.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
3.
A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.
Sci Rep
; 12(1): 22597, 2022 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585409
4.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Nat Commun
; 13(1): 6841, 2022 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369169
5.
In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale.
Front Cell Dev Biol
; 9: 642235, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34124035
6.
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
J Med Chem
; 64(21): 15973-15990, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714648
7.
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Parkinsonism Relat Disord
; 72: 75-79, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120303
8.
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.
Parkinsonism Relat Disord
; 61: 207-210, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30337205