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Víctor Faundes

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profesor/a

Universidad de Chile

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Research Interests

Recent Grants

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Beca de Doctorado de Faúndez-Gómez, Víctor Manuel

Open Date: 2015-01-01

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Articles (12)

Year:

2026

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2026

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2026

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2025

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2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

Collaborators (6)

Sally Ann Lynch

IRELAND

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Ilse Meerschaut

University Hospitals Leuven

BELGIUM

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Hieab Adams

university medical center rotterdam

NETHERLANDS

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Ilaria Parenti

Universität Duisburg-Essen

GERMANY

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Theodore G. Drivas

University of Pennsylvania

UNITED STATES

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Víctor Faundes

Research Interests

Recent Grants

Articles (12)

Computer‐Aided Facial Analysis and Non‐Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study

Consenso intersocietario: Recomendaciones sobre diseño y reporte de estudios genéticos en la práctica clínica

Craneosinostosis sindrómicas relacionadas con genes FGFR: estudio clínico y molecular

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.

Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Letter to the Editor: How Spermidine and Targeting Eukaryotic Initiator Factor 5A Might Help to Both a Novel Congenital Disorder and Brain Aging

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile

Collaborators (6)

Sally Ann Lynch

Ilse Meerschaut

Hieab Adams

Ilaria Parenti

Siddharth Banka

Theodore G. Drivas

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