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Hitti-Malin, Rebekkah J
43
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Online (43)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (26)
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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/..
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2
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/..
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3
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/..
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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
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/..
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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/..
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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/..
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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...
1-15