E-LIB Suche - Ergebnisse für: Ayuso, Carmen - Sprache EN

Search for persons X

Sorted by: Relevance

Sorted by: Year

1

Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Mi..:

Toribio-Fernández, Raquel ; Tristão-Pereira, Catarina ; Carlos Silla-Castro, Juan...
Circulation Research. 134 (2024) 4 - p. 411-424 , 2024

Link: https://doi.org/10.1161/..

2

Detection of elusive DNA copy-number variations in heredita..:

Quinodoz, Mathieu ; Kaminska, Karolina ; Cancellieri, Francesca...
The American Journal of Human Genetics. 111 (2024) 4 - p. 701-713 , 2024

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

3

Towards Uncovering the Role of Incomplete Penetrance in Mac..:

Hitti-Malin, Rebekkah J. ; Panneman, Daan M. ; Corradi, Zelia...
Biomolecules. 14 (2024) 3 - p. 367 , 2024

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

4

Evidence and Choice: The BCLC Vision for Tailoring Clinical..:

Reig, Maria ; Forner, Alejandro ; Rimola, Jordi...
Journal of Hepatology. , 2024

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

5

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

6

Creation of an Isogenic Human iPSC-Based RGC Model of Domin..:

García-López, Marta ; Jiménez-Vicente, Lydia ; González-Jabardo, Raquel...
International Journal of Molecular Sciences. 25 (2024) 13 - p. 7240 , 2024

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

7

Multicentric Longitudinal Prospective Study in a European C..:

Testa, Francesco ; Carreño, Ester ; van den Born, L. Ingeborgh...
Investigative Ophthalmology & Visual Science. 65 (2024) 6 - p. 25 , 2024

Link: https://doi.org/10.1167/..

8

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 1..:

Fernández-Caballero, Lidia ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2913 , 2024

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

9

Genetic background of congenital aniridia:

Damian, Alejandra ; Blanco‐Kelly, Fiona ; Tamayo, Alejandra...
Acta Ophthalmologica. 102 (2024) S279 - p. , 2024

Link: https://doi.org/10.1111/..

10

MRI Using Gadoxetic Acid in the Work-Up of Liver Nodules No..:

García-Criado, Angeles ; Rimola, Jordi ; Seijo, Susana...
Liver Cancer. 13 (2023) 2 - p. 203-214 , 2023

Link: https://doi.org/10.1159/..

11

Biallelic intragenic tandem duplication of CPLANE1 in Joube..:

Martínez‐Granero, Francisco ; Martínez‐Cayuelas, Elena ; Rodilla, Cristina...
Clinical Genetics. 103 (2023) 4 - p. 448-452 , 2023

Link: https://doi.org/10.1111/..

12

A crowdsourcing database for the copy-number variation of t..:

López-López, Daniel ; Roldán, Gema ; Fernández-Rueda, Jose L....
Human Genomics. 17 (2023) 1 - p. , 2023

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

13

TBC1D32 variants disrupt retinal ciliogenesis and cause ret..:

Bocquet, Béatrice ; Borday, Caroline ; Erkilic, Nejla...
JCI Insight. 8 (2023) 21 - p. , 2023

Link: https://doi.org/10.1172/..

14

Correction: Clinical and genetic analysis further delineate..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics. 31 (2023) 10 - p. 1196-1198 , 2023

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

15

Long-read genome sequencing identifies cryptic structural v..:

Damián, Alejandra ; Núñez-Moreno, Gonzalo ; Jubin, Claire...
Human Genomics. 17 (2023) 1 - p. , 2023

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

1-15