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María Arnedo

Showing results (1-10 of 24) 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.
International Journal of Molecular Sciences|December 11, 2019
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic OnesMaría 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 DeficiencyMaría Arnedo, David Ros-Pardo, Beatriz Puisac, et al.
Molecular Genetics and Metabolism|March 8, 2013
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiencyBeatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduriaBeatriz Puisac, María Arnedo, Cesar H Casale, et al.
BMC Medical Genetics|June 9, 2012
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individualJolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, 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.
Journal of Lipid Research|August 1, 2012
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosolMaría Arnedo, Sebastián Menao, Beatriz Puisac, et al.
Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Anales De Pediatria|May 12, 2024
Cornelia de Lange SpectrumÁngela Ascaso, María Arnedo, Beatriz Puisac, et al.
International Journal of Molecular Sciences|December 11, 2019
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic OnesMaría 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 DeficiencyMaría Arnedo, David Ros-Pardo, Beatriz Puisac, et al.
Molecular Genetics and Metabolism|March 8, 2013
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiencyBeatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduriaBeatriz Puisac, María Arnedo, Cesar H Casale, et al.
BMC Medical Genetics|June 9, 2012
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individualJolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, 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.
Journal of Lipid Research|August 1, 2012
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosolMaría Arnedo, Sebastián Menao, Beatriz Puisac, et al.
Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
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