I agree that this site is using cookies. You can find further informations here.
X
Corton, Marta
258  results:
Search for persons X
?
1

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/..
 
?
2

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/..
 
?
3

The sub‐basal nerve plexus and central corneal stromal micr..:

Szentmáry, Nóra ; Csorba, Anita ; Kormányos, Kitti...
Acta Ophthalmologica.  102 (2024)  S279 - p. , 2024
Link: https://doi.org/10.1111/..
 
?
4

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/..
 
?
5

Congenitalis aniridia – egy spektrumbetegség magyarországi ..:

Náray, Annamária ; Csidey, Mária ; Kéki-Kovács, Klaudia...
Orvosi Hetilap.  164 (2023)  4 - p. 148-155 , 2023
Link: https://doi.org/10.1556/..
 
?
6

Correction: VIsoQLR: an interactive tool for the detection,..:

Núñez-Moreno, Gonzalo ; Tamayo, Alejandra ; Ruiz-Sánchez, Carolina..
Human Genetics.  142 (2023)  7 - p. 995-995 , 2023
Link: https://doi.org/10.1007/..
 
?
7

Minigene Splicing Assays and Long-Read Sequencing to Unrave..:

Tamayo, Alejandra ; Núñez-Moreno, Gonzalo ; Ruiz, Carolina...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1562 , 2023
Link: https://doi.org/10.3390/..
 
?
8

Veleszületett aniridiás betegek látáskárosodással kapcsolat..:

Csidey, Mária ; Grupcheva, Christina ; Stachon, Tanja...
Orvosi Hetilap.  164 (2023)  34 - p. 1342-1349 , 2023
Link: https://doi.org/10.1556/..
 
?
9

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/..
 
?
10

Az aniridiához társult keratopathia stádiumbeosztása:

Náray, Annamária ; Fries, Fabian Norbert ; Csidey, Mária...
Orvosi Hetilap.  164 (2023)  27 - p. 1063-1069 , 2023
Link: https://doi.org/10.1556/..
 
?
11

Prioritization of New Candidate Genes for Rare Genetic Dise..:

de la Fuente, Lorena ; Del Pozo-Valero, Marta ; Perea-Romero, Irene...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1661 , 2023
Link: https://doi.org/10.3390/..
 
?
12

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/..
 
?
13

VIsoQLR: an interactive tool for the detection, quantificat..:

Núñez-Moreno, Gonzalo ; Tamayo, Alejandra ; Ruiz-Sánchez, Carolina..
Human Genetics.  142 (2023)  4 - p. 495-506 , 2023
Link: https://doi.org/10.1007/..
 
?
14

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D..:

Rodilla, Cristina ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
American Journal of Ophthalmology.  254 (2023)  - p. 87-103 , 2023
Link: https://doi.org/10.1016/..
 
?
15

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/..
 
1-15