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

1

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/..

2

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/..

3

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/..

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

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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...

13

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

Panneman, Daan M ; Hitti-Malin, Rebekkah J ; Holtes, Lara K...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

Link: http://hdl.handle.net/10..

14

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

de Bruijn, Suzanne E ; Rodenburg, Kim ; Corominas, Jordi...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.11.013. , 2023

Link: https://hdl.handle.net/2..

15

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation ..:

Corradi, Zelia ; Salameh, Manar ; Khan, Mubeen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055564/. , 2022

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