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Beatriz Puisac

Showing results (1-10 of 47) with videos related to

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Behavioural Brain Research|August 27, 2013
Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivityPatricia Carrasco, Jordi Jacas, Ignasi Sahún, et al.
Medicina Clinica|June 21, 2017
Cornelia de Lange syndrome: Congenital heart disease in 149 patientsAriadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, et al.
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.
American Journal of Medical Genetics. Part A|June 2, 2020
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndromeFrancesco Cucco, Patrizia Sarogni, Sara Rossato, et al.
International Journal of Molecular Sciences|March 31, 2018
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New PatientsBeatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, et al.
Molecular Genetics and Metabolism|August 19, 2007
Molecular genetics of HMG-CoA lyase deficiencyJuan Pié, Eduardo López-Viñas, Beatriz Puisac, 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.
Molecular Genetics and Metabolism|April 27, 2007
C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activityPatricia Carrasco, Sebastian Menao, Eduardo López-Viñas, et al.
Pageof 5

Showing results (1-10 of 47) with videos related to

Sort By:
Pageof 5
Behavioural Brain Research|August 27, 2013
Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivityPatricia Carrasco, Jordi Jacas, Ignasi Sahún, et al.
Medicina Clinica|June 21, 2017
Cornelia de Lange syndrome: Congenital heart disease in 149 patientsAriadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, et al.
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.
American Journal of Medical Genetics. Part A|June 2, 2020
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndromeFrancesco Cucco, Patrizia Sarogni, Sara Rossato, et al.
International Journal of Molecular Sciences|March 31, 2018
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New PatientsBeatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, et al.
Molecular Genetics and Metabolism|August 19, 2007
Molecular genetics of HMG-CoA lyase deficiencyJuan Pié, Eduardo López-Viñas, Beatriz Puisac, 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.
Molecular Genetics and Metabolism|April 27, 2007
C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activityPatricia Carrasco, Sebastian Menao, Eduardo López-Viñas, et al.
Pageof 5