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Beatriz Puisac

Showing results (11-20 of 47) with videos related to

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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.
Biophysical Chemistry|March 9, 2005
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HLBeatriz Puisac, Eduardo López-Viñas, Susana Moreno, 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.
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.
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.
Scientific Reports|June 14, 2017
Two-step ATP-driven opening of cohesin headÍñigo Marcos-Alcalde, Jesús I Mendieta-Moreno, 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 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.
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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 11, 2016
Special cases in Cornelia de Lange syndrome: The Spanish experienceJuan Pié, Beatriz Puisac, Maria Hernández-Marcos, et al.
Pageof 5

Showing results (11-20 of 47) with videos related to

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Pageof 5
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.
Biophysical Chemistry|March 9, 2005
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HLBeatriz Puisac, Eduardo López-Viñas, Susana Moreno, 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.
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.
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.
Scientific Reports|June 14, 2017
Two-step ATP-driven opening of cohesin headÍñigo Marcos-Alcalde, Jesús I Mendieta-Moreno, 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 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.
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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 11, 2016
Special cases in Cornelia de Lange syndrome: The Spanish experienceJuan Pié, Beatriz Puisac, Maria Hernández-Marcos, et al.
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