E-LIB Suche - Ergebnisse für: del Olmo, Bernat

1

Implementing a New Algorithm for Reinterpretation of Ambigu..:

Pérez-Serra, Alexandra ; Toro, Rocío ; Martinez-Barrios, Estefanía...
International Journal of Molecular Sciences. 25 (2024) 7 - p. 3807 , 2024

Link: https://doi.org/10.3390/..

2

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: ..:

Martínez Olorón, Patricia ; Alegría, Iosune ; Cesar, Sergi...
International Journal of Molecular Sciences. 25 (2024) 11 - p. 5836 , 2024

Link: https://doi.org/10.3390/..

3

Reevaluation of ambiguous genetic variants in sudden unexpl..:

Martinez-Barrios, Estefanía ; Sarquella-Brugada, Georgia ; Perez-Serra, Alexandra...
International Journal of Legal Medicine. 137 (2023) 2 - p. 345-351 , 2023

Link: https://doi.org/10.1007/..

4

Epidemiology and Molecular Profile of Mucosal Melanoma: A P..:

Carbó-Bagué, Anna ; Rubió-Casadevall, Jordi ; Puigdemont, Montserrat...
Cancers. 14 (2022) 3 - p. 780 , 2022

Link: https://doi.org/10.3390/..

5

Unpredicted Aberrant Splicing Products Identified in Postmo..:

Coll, Monica ; Fernandez-Falgueras, Anna ; Iglesias, Anna...
International Journal of Molecular Sciences. 23 (2022) 20 - p. 12640 , 2022

Link: https://doi.org/10.3390/..

6

Discerning the Ambiguous Role of Missense TTN Variants in I..:

Martínez-Barrios, Estefanía ; Sarquella-Brugada, Georgia ; Pérez-Serra, Alexandra...
Journal of Personalized Medicine. 12 (2022) 2 - p. 241 , 2022

Link: https://doi.org/10.3390/..

7

Rare variants in genes encoding structural myocyte contribu..:

Alcalde, Mireia ; Nogué-Navarro, Laia ; Tiron, Coloma...
Forensic Science International: Genetics. 58 (2022) - p. 102688 , 2022

Link: https://doi.org/10.1016/..

8

Post-mortem toxicology analysis in a young sudden cardiac d..:

Coll, Mònica ; Fernàndez-Falgueras, Anna ; Tiron, Coloma...
Forensic Science International: Genetics. 59 (2022) - p. 102723 , 2022

Link: https://doi.org/10.1016/..

9

Clinical impact of rare variants associated with inherited ..:

Sarquella-Brugada, Georgia ; Fernandez-Falgueras, Anna ; Cesar, Sergi...
Human Genetics. 141 (2021) 10 - p. 1579-1589 , 2021

Link: https://doi.org/10.1007/..

10

Rare Variants Associated with Arrhythmogenic Cardiomyopathy..:

Vallverdú-Prats, Marta ; Alcalde, Mireia ; Sarquella-Brugada, Georgia...
Journal of Personalized Medicine. 11 (2021) 3 - p. 162 , 2021

Link: https://doi.org/10.3390/..

11

Analysis of Brugada syndrome loci reveals that fine-mapping..:

Pinsach-Abuin, Mel·lina ; del Olmo, Bernat ; Pérez-Agustin, Adrian...
Cell Reports Medicine. 2 (2021) 4 - p. 100250 , 2021

Link: https://doi.org/10.1016/..

12

Short QT Syndrome: A Comprehensive Genetic Interpretation a..:

Campuzano, Oscar ; Fernandez-Falgueras, Anna ; Lemus, Ximena...
Journal of Clinical Medicine. 8 (2019) 7 - p. 1035 , 2019

Link: https://doi.org/10.3390/..

13

Genetic interpretation and clinical translation of minor ge..:

Campuzano, Oscar ; Sarquella‐Brugada, Georgia ; Fernandez‐Falgueras, Anna...
Human Mutation. 40 (2019) 6 - p. 749-764 , 2019

Link: https://doi.org/10.1002/..

14

Personalized Interpretation and Clinical Translation of Gen..:

Campuzano, Oscar ; Fernandez-Falgueras, Anna ; Sarquella-Brugada, Georgia...
Frontiers in Genetics. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

15

Role of copy number variants in sudden cardiac death and re..:

Mates, Jesus ; Mademont-Soler, Irene ; del Olmo, Bernat...
European Journal of Human Genetics. 26 (2018) 7 - p. 1014-1025 , 2018

Link: https://doi.org/10.1038/..