Cinthia Aguilera

4PUBLICATIONS
13CO-AUTHORS
Infant and child healthGene expression (incl. microarray and other genome-wide approaches)HaematologyStudies of Asian society
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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

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

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

|Dec 15, 2018
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Cinthia Aguilera, Elisabeth Gabau, Steve Laurie

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Frequent Collaborators

3 joint publications

Anna Esteve-Garcia

2 joint publications

Ariadna Padró-Miquel

1 joint publications

Pau Cerdà

1 joint publications

Raquel Torres-Iglesias