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Beatriz Puisac

Showing results (21-30 of 47) with videos related to

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Frontiers in Genetics|October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndromeMarta 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 ApproachesMaría 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' PerspectivesJulia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences|March 1, 2017
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange SyndromeBeatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, 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 syndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Nature Communications|July 28, 2021
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptomePatricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
European Journal of Medical Genetics|June 12, 2013
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutationsMónica Ramos, Sebastián Menao, María Arnedo, et al.
Molecular Biology Reports|September 29, 2011
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathwayBeatriz Puisac, Mónica Ramos, María Arnedo, et al.
Genes|August 26, 2022
A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange SyndromeCristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
Frontiers in Genetics|October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndromeMarta 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 ApproachesMaría 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' PerspectivesJulia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences|March 1, 2017
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange SyndromeBeatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, 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 syndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Nature Communications|July 28, 2021
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptomePatricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
European Journal of Medical Genetics|June 12, 2013
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutationsMónica Ramos, Sebastián Menao, María Arnedo, et al.
Molecular Biology Reports|September 29, 2011
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathwayBeatriz Puisac, Mónica Ramos, María Arnedo, et al.
Genes|August 26, 2022
A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange SyndromeCristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, et al.
Pageof 5