E-LIB Suche - Ergebnisse für: Hitti-Malin, Rebekkah

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

2

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/..

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

Next-generation sequencing to genetically diagnose a divers..:

Basharat, Rabia ; de Bruijn, Suzanne E. ; Zahid, Muhammad...
Experimental Eye Research. 244 (2024) - p. 109945 , 2024

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

5

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/..

6

Optical genome mapping and revisiting short-read genome seq..:

de Bruijn, Suzanne E. ; Rodenburg, Kim ; Corominas, Jordi...
Genetics in Medicine. 25 (2023) 3 - p. 100345 , 2023

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

7

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/..

8

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

9

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/..

10

Table6_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s007. , 2023

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

11

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/..

12

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/..

13

Table9_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s010. , 2023

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

14

Table7_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s008. , 2023

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

15

Image1_Cost-effective sequence analysis of 113 genes in 1,1..:

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
doi:10.3389/fcell.2023.1112270.s001. , 2023

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