Beatriz Puisac

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 5

Top Topics

Acute Kidney Injury

Top Venues

Journal of clinical medicine

Molecular genetics & genomic medicine

Nature communications

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J Ramos, Ariadna Ayerza-Casas, Juan Pié
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder. Journal of clinical medicine 12 (12) (2023)
Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J Ramos, Ariadna Ayerza-Casas, Juan Pié
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder. Journal of clinical medicine 12 (12) (2023)
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J Ramos, Gloria Bueno, Juan Pié, Beatriz Puisac
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches. International journal of molecular sciences 23 (17) (2022)
Ana Latorre-Pellicer, Ángela Ascaso, Cristina Lucia-Campos, Marta Gil-Salvador, María Arnedo, Rebeca Antoñanzas, Ariadna Ayerza-Casas, Iñigo Marcos-Alcalde, Paulino Gómez-Puertas, Feliciano J Ramos, Juan Pié, Beatriz Puisac
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11. Molecular genetics & genomic medicine 9 (11) (2021)
Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gómez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J Pié, Ana Losada, Ethel Queralt
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome. Nature communications 12 (1) (2021)