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Redox Biology
|
November 27, 2016
Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
Sandra Torres, Nuria Matías, Anna Baulies, et al.
American Journal of Human Genetics
|
September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
Francesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Forensic Science International. Genetics
|
August 8, 2018
Molecular autopsy in a cohort of infants died suddenly at rest
Oscar Campuzano, Pilar Beltramo, Anna Fernandez, et al.
Journal of Hepatology
|
May 28, 2013
ASMase is required for chronic alcohol induced hepatic endoplasmic reticulum stress and mitochondrial cholesterol loading
Anna Fernandez, Núria Matias, Raquel Fucho, et al.
Plos One
|
January 5, 2012
Prediction of high-grade vesicoureteral reflux after pediatric urinary tract infection: external validation study of procalcitonin-based decision rule
Sandrine Leroy, François Bouissou, Anna Fernandez-Lopez, et al.
Journal of Hepatology
|
June 20, 2014
ASMase regulates autophagy and lysosomal membrane permeabilization and its inhibition prevents early stage non-alcoholic steatohepatitis
Raquel Fucho, Laura Martínez, Anna Baulies, et al.
Frontiers in Genetics
|
June 4, 2019
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, et al.
Human Genetics
|
September 21, 2021
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, et al.
Journal of Personalized Medicine
|
March 3, 2021
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later
Marta Vallverdú-Prats, Mireia Alcalde, Georgia Sarquella-Brugada, et al.
International Journal of Legal Medicine
|
January 24, 2023
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
Estefanía Martinez-Barrios, Georgia Sarquella-Brugada, Alexandra Perez-Serra, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 45) with videos related to
Sort By:
Page
of 5
Redox Biology
|
November 27, 2016
Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
Sandra Torres, Nuria Matías, Anna Baulies, et al.
American Journal of Human Genetics
|
September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
Francesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Forensic Science International. Genetics
|
August 8, 2018
Molecular autopsy in a cohort of infants died suddenly at rest
Oscar Campuzano, Pilar Beltramo, Anna Fernandez, et al.
Journal of Hepatology
|
May 28, 2013
ASMase is required for chronic alcohol induced hepatic endoplasmic reticulum stress and mitochondrial cholesterol loading
Anna Fernandez, Núria Matias, Raquel Fucho, et al.
Plos One
|
January 5, 2012
Prediction of high-grade vesicoureteral reflux after pediatric urinary tract infection: external validation study of procalcitonin-based decision rule
Sandrine Leroy, François Bouissou, Anna Fernandez-Lopez, et al.
Journal of Hepatology
|
June 20, 2014
ASMase regulates autophagy and lysosomal membrane permeabilization and its inhibition prevents early stage non-alcoholic steatohepatitis
Raquel Fucho, Laura Martínez, Anna Baulies, et al.
Frontiers in Genetics
|
June 4, 2019
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, et al.
Human Genetics
|
September 21, 2021
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, et al.
Journal of Personalized Medicine
|
March 3, 2021
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later
Marta Vallverdú-Prats, Mireia Alcalde, Georgia Sarquella-Brugada, et al.
International Journal of Legal Medicine
|
January 24, 2023
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
Estefanía Martinez-Barrios, Georgia Sarquella-Brugada, Alexandra Perez-Serra, et al.
Page
of 5