Antonio Martinez-Monseny

11PUBLICATIONS
32CO-AUTHORS
Psychological methodology, design and analysisMedical molecular engineering of nucleic acids and proteinsEpigenetics (incl. genome methylation and epigenomics)Medical mycologyMedical infection agents (incl. prions)
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Publications (11)

|May 27, 2026
DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

|Sep 04, 2025
A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.

Camilo E Alarcón-Pérez, Marta Ivars, Cinzia Lavarino

|Aug 28, 2025
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.

David Foz Felipe, Dídac Casas-Alba, Sara H Sadok

|Jan 11, 2025
MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells

|Mar 07, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Daniel Brooks, Elizabeth Burke, Sukyeong Lee

|Nov 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona

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Frequent Collaborators

5 joint publications

Judith Armstrong

3 joint publications

Dídac Casas-Alba

1 joint publications

María I Tejada

1 joint publications

Eduardo Tizzano