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International Journal of Molecular Sciences
|
December 11, 2019
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones
María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 13, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency
María Arnedo, David Ros-Pardo, 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 Disorder
Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, et al.
Cureus
|
May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, 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 Syndromes
Julia 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 syndrome
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Frontiers in Genetics
|
October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndrome
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, et al.
Behavioral Sciences (Basel, Switzerland)
|
February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives
Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
The International Journal of Cardiovascular Imaging
|
November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
International Journal of Molecular Sciences
|
December 11, 2019
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones
María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 13, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency
María Arnedo, David Ros-Pardo, 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 Disorder
Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, et al.
Cureus
|
May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, 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 Syndromes
Julia 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 syndrome
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Frontiers in Genetics
|
October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndrome
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, et al.
Behavioral Sciences (Basel, Switzerland)
|
February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives
Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
The International Journal of Cardiovascular Imaging
|
November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Page
of 2