E-LIB Suche - Ergebnisse für: Corradi, Zelia

1

Study of Late-Onset Stargardt Type 1 Disease:

Li, Catherina H.Z. ; Pas, Jeroen A.A.H. ; Corradi, Zelia...
Ophthalmology. 131 (2024) 1 - p. 87-97 , 2024

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

2

Preclinical Development of Antisense Oligonucleotides to Re..:

Suárez-Herrera, Nuria ; Li, Catherina H. Z. ; Leijsten, Nico...
Cells. 13 (2024) 7 - p. 601 , 2024

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

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

Novel and Recurrent Copy Number Variants in ABCA4-Associate..:

Corradi, Zelia ; Dhaenens, Claire-Marie ; Grunewald, Olivier...
International Journal of Molecular Sciences. 25 (2024) 11 - p. 5940 , 2024

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

5

Detailed analysis of an enriched deep intronic ABCA4 varian..:

Whelan, Laura ; Dockery, Adrian ; Stephenson, Kirk A. J....
Scientific Reports. 13 (2023) 1 - p. , 2023

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

6

ABCA4 c.6480-35A>G, a novel branchpoint variant associated ..:

Rodríguez-Hidalgo, María ; de Bruijn, Suzanne E. ; Corradi, Zelia...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

7

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Res..:

Sajovic, Jana ; Meglič, Andrej ; Corradi, Zelia...
Investigative Opthalmology & Visual Science. 64 (2023) 12 - p. 33 , 2023

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

8

Effective smMIPs-Based Sequencing of Maculopathy-Associated..:

Mc Clinton, Benjamin ; Corradi, Zelia ; McKibbin, Martin...
Genes. 14 (2023) 1 - p. 191 , 2023

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

9

Stargardt disease-associated missense and synonymous ABCA4 ..:

Kaltak, Melita ; Corradi, Zelia ; Collin, Rob W J..
Human Molecular Genetics. 32 (2023) 21 - p. 3078-3089 , 2023

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

10

Targeted sequencing and in vitro splice assays shed light o..:

Corradi, Zelia ; Khan, Mubeen ; Hitti-Malin, Rebekkah...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100237 , 2023

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

11

Effective smMIPs-Based Sequencing of Maculopathy-Associated..:

Benjamin Mc Clinton ; Zelia Corradi ; Martin McKibbin...
Human Genomics and Genetic Diseases. , 2023

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

12

Image1_ABCA4 c.6480-35A>G, a novel branchpoint variant asso..:

María Rodríguez-Hidalgo ; Suzanne E. de Bruijn ; Zelia Corradi...
doi:10.3389/fgene.2023.1234032.s001. , 2023

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

13

Effective smMIPs-Based Sequencing of Maculopathy-Associated..:

Benjamin Mc Clinton ; Zelia Corradi ; Martin McKibbin...
https://www.mdpi.com/2073-4425/14/1/191. , 2023

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

14

Targeted sequencing and in vitro splice assays shed light o..:

Zelia Corradi ; Mubeen Khan ; Rebekkah Hitti-Malin...
http://www.sciencedirect.com/science/article/pii/S2666247723000696. , 2023

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

15

Targeted sequencing and in vitro splice assays shed light o..:

Corradi, Zelia ; Khan, Mubeen ; Hitti-Malin, Rebekkah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534262/. , 2023

Link: http://www.ncbi.nlm.nih...