E-LIB Suche - Ergebnisse für: Hitti‐Malin, Rebekkah J.

1

Cost‐effective smMIPs‐based sequencing to provide a genetic..:

Panneman, Daan M. ; Hitti‐Malin, Rebekkah J. ; Roosing, Susanne.
Acta Ophthalmologica. 102 (2024) S279 - p. , 2024

2

Using single molecule Molecular Inversion Probes as a cost‐..:

Hitti‐Malin, Rebekkah J. ; Dhaenens, Claire‐Marie ; Panneman, Daan M....
Human Mutation. 43 (2022) 12 - p. 2234-2250 , 2022

Link: https://doi.org/10.1002/..

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

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/..

6

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/..

7

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/..

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

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/..

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

ABCA4c.859-25A>G, a Frequent Palestinian Founder Mutatio..:

Corradi, Zelia ; Salameh, Manar ; Khan, Mubeen...
Investigative Opthalmology & Visual Science. 63 (2022) 4 - p. 20 , 2022

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

12

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS..:

Hitti-Malin, Rebekkah J. ; Burmeister, Louise M. ; Lingaas, Frode...
Genes. 12 (2021) 11 - p. 1771 , 2021

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

13

A LINE-1 insertion situated in the promoter of IMPG2 is ass..:

Hitti-Malin, Rebekkah J. ; Burmeister, Louise M. ; Ricketts, Sally L....
BMC Genetics. 21 (2020) 1 - p. , 2020

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

14

Using single molecule Molecular Inversion Probes as a cost‐..:

Hitti‐Malin, Rebekkah J ; Dhaenens, Claire‐Marie ; Panneman, Daan M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092144/. , 2022

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

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/..