Judith Armstrong-Moron
18PUBLICATIONS
68CO-AUTHORS

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Publications (18)
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|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
<i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells
|May 15, 2024
Multi-omics in MECP2 duplication syndrome patients and carriers.Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov
|Mar 07, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.Daniel Brooks, Elizabeth Burke, Sukyeong Lee
|Jan 21, 2023
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects.Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez
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Frequent Collaborators
5 joint publications
Antonio F Martínez-Monseny
3 joint publications
Dídac Casas-Alba
3 joint publications
Mar O'Callaghan
2 joint publications
Francesc Palau
2 joint publications
Soledad Alcántara
2 joint publications
Àngels García-Cazorla
1 joint publications
A Bachiller
1 joint publications
A Tost
1 joint publications
Maria L Couce
1 joint publications
A López-Sala