Anna Esteve-Garcia

4PUBLICATIONS
15CO-AUTHORS
Infant and child healthGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Haematology
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Publications (4)

|May 01, 2026
New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.

|Sep 09, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Anna Esteve-Garcia, Ariadna Padró-Miquel, Jaume Català-Mora

|Jan 08, 2025
Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Anna Esteve-Garcia, Cristina Sau, Ariadna Padró-Miquel

|Mar 29, 2023
Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.

Cinthia Aguilera, Ariadna Padró-Miquel, Anna Esteve-Garcia

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Frequent Collaborators

3 joint publications

Cinthia Aguilera

3 joint publications

Ariadna Padró-Miquel

2 joint publications

Jaume Català-Mora

1 joint publications

Pau Cerdà