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Julia Del Rincón

Showing results (1-10 of 6) with videos related to

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Anales De Pediatria|May 12, 2024
Cornelia de Lange SpectrumÁngela Ascaso, María Arnedo, Beatriz Puisac, et al.
Journal of Clinical Medicine|June 28, 2023
Heart Disease Characterization and Myocardial Strain Analysis in Patients with <i>PACS1</i> Neurodevelopmental DisorderAna Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, et al.
International Journal of Molecular Sciences|August 28, 2025
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in <i>PACS1</i>-, <i>PACS2</i>-, and <i>WDR37</i>-Related SyndromesJulia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos, et al.
Scientific Reports|July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndromeMarta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Behavioral Sciences (Basel, Switzerland)|February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' PerspectivesJulia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Anales De Pediatria|May 12, 2024
Cornelia de Lange SpectrumÁngela Ascaso, María Arnedo, Beatriz Puisac, et al.
Journal of Clinical Medicine|June 28, 2023
Heart Disease Characterization and Myocardial Strain Analysis in Patients with <i>PACS1</i> Neurodevelopmental DisorderAna Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, et al.
International Journal of Molecular Sciences|August 28, 2025
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in <i>PACS1</i>-, <i>PACS2</i>-, and <i>WDR37</i>-Related SyndromesJulia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos, et al.
Scientific Reports|July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndromeMarta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Behavioral Sciences (Basel, Switzerland)|February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' PerspectivesJulia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Pageof 1