E-LIB Suche - Ergebnisse für: Sanchez, Aurora

1

Implementation of Exome Sequencing in Clinical Practice for..:

Alvarez-Mora, María Isabel ; Rodríguez-Revenga, Laia ; Jodar, Meritxell...
Genes. 14 (2023) 4 - p. 813 , 2023

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

2

Sustainable e-Learning by Data Mining—Successful Results in..:

Sánchez, Aurora ; Vidal-Silva, Cristian ; Mancilla, Gabriela..
Sustainability. 15 (2023) 2 - p. 895 , 2023

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

3

Very Long Time Persistent HyperCKemia as the First Manifest..:

Torres, Viviana ; Painous, Cèlia ; Santacruz, Pilar...
Movement Disorders Clinical Practice. 9 (2022) 6 - p. 821-824 , 2022

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

4

Diagnostic yield of next-generation sequencing in 87 famili..:

Álvarez-Mora, María Isabel ; Sánchez, Aurora ; Rodríguez-Revenga, Laia...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

5

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The R..:

Alvarez-Mora, Maria Isabel ; Corominas, Jordi ; Gilissen, Christian...
Genes. 12 (2021) 4 - p. 557 , 2021

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

6

Targeted Next-Generation Sequencing in a Large Cohort of Ge..:

Gonzalez-Quereda, Lidia ; Rodriguez, Maria Jose ; Diaz-Manera, Jordi...
Genes. 11 (2020) 5 - p. 539 , 2020

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

7

Anoctamin 5 (ANO5) muscular dystrophy—three different pheno..:

Seguí, Ferran ; Gonzalez-Quereda, Lidia ; Sanchez, Aurora...
Neurological Sciences. 41 (2020) 10 - p. 2967-2971 , 2020

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

8

Effect of Dietary Nitrate and Anthocyanins on Anaerobic Exe..:

Tsai, Paul ; Huang, Yun Chieh ; Sanchez, Aurora...
Current Developments in Nutrition. 4 (2020) - p. nzaa066_001 , 2020

Link: https://doi.org/10.1093/..

9

South American Expert Roundtable: Increasing Adaptive Gover..:

Viale Pereira, Gabriela ; Estevez, Elsa ; Cardona, Diego...
Sustainability. 12 (2020) 2 - p. 718 , 2020

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

10

A novel germline variant in RET gene resulting in an additi..:

Oriola, Josep ; Sanchez, Aurora ; Paniello, Blanca..
Familial Cancer. 20 (2020) 3 - p. 253-256 , 2020

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

11

Marfan syndrome: ocular findings and novel mutations—in pur..:

Latasiewicz, Marta ; Fontecilla, Christian ; Millá, Elena.
Canadian Journal of Ophthalmology. 51 (2016) 2 - p. 113-118 , 2016

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

12

Study of a fetal brain affected by a severe form of tyrosin..:

Tristán-Noguero, Alba ; Díez, Héctor ; Jou, Cristina...
Metabolic Brain Disease. 31 (2015) 3 - p. 705-709 , 2015

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

13

Anti-apoptotic, anti-oxidant, and anti-inflammatory effects..:

Palencia, Guadalupe ; Medrano, Juan Ángel Núñez- ; Ortiz-Plata, Alma...
Journal of the Neurological Sciences. 351 (2015) 1-2 - p. 78-87 , 2015

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

14

Editorial: Mapping the Structure of International Research ..:

Ronda-Pupo, Guillermo Armando ; Sánchez, Aurora ; Cerpa, Narciso
Journal of theoretical and applied electronic commerce research. 10 (2015) 3 - p. 0-0 , 2015

Link: https://doi.org/10.4067/..

15

Nuchal translucency thickness in the prediction of unbalanc..:

Arigita, Marta ; Grande, Maribel ; Mula, Raquel...
Prenatal Diagnosis. 34 (2014) 10 - p. 982-985 , 2014

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