Encarna Guillén-Navarro

7PUBLICATIONS
29CO-AUTHORS
Major global burdens of diseaseBehavioural epidemiologyInfant and child healthHaematologyMedical molecular engineering of nucleic acids and proteins
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Publications (7)

|Nov 21, 2025
New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

Elena Di Pierro, Isabel Solares, Daniel Jericó

|May 15, 2025
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.

Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran

|Mar 11, 2025
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves

|Jun 27, 2024
HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.

María Carmen Martínez-Romero, María Encarnación Hernández-Contreras, Juan Antonio Bafalliu-Vidal

|Aug 12, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado

|Feb 28, 2021
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.

Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña

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Frequent Collaborators

1 joint publications

Laura Blasco-Pérez

1 joint publications

Mar Costa-Roger

1 joint publications

Sara Bernal

1 joint publications

Marta Codina-Solà