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Diana Avila-Jaque
Institution:
Hospital San Juan de Dios
Observed institutions:
Hospital San Juan de Dios,
Hospital San Juan de Dios,
Hospital Clínico de la Universidad de Chile,
Hospital San Juan de Dios,
University of Chile
ORCID:
0009-0002-7787-6847
Observed ORCID:
0009-0002-7787-6847
OpenAlex ID:
A5019733290
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients
2024
·
Diana Avila-Jaque
, Fernanda Martin
, et al.
·
The Cerebellum
·
7
PDF
Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.
2024
·
Fernanda J Martin
, Isabel M Saffie
, et al.
·
ecancermedicalscience
·
6
PDF
Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families
2025
·
Felipe Arancibia
, Fernanda Martin
, et al.
·
Biological Research
·
1
Síndrome de Alagille por deleción del gen JAG1. Una causa poco frecuente
2024
·
Diana Avila-Jaque
, Catherine Díaz
, et al.
·
Andes pediatrica
PDF
Síndrome de Netherton: una genodermatosis rara y discapacitante
2022
·
Douglas del Castillo
, Camilo Barraza
, et al.
·
Piel
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Works count:
5
Citation count:
14
H-index:
2
I10-index:
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