E-LIB Suche - Ergebnisse für: Cortón, Marta

1

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/..

2

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/..

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

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

Clinical and genetic analysis further delineates the phenot..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics. 31 (2023) 10 - p. 1175-1180 , 2023

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

15

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/..