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Hitti, Rebekkah J.
54
results:
Search for persons
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Format
Online (54)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (37)
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1
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in mi..:
Granger, Nicolas
;
Luján Feliu-Pascual, Alejandro
;
Spicer, Charlotte
...
PeerJ. 7 (2019) - p. e7983 , 2019
Link:
https://doi.org/10.7717/..
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2
Clinical, histopathological and genetic characterisation of..:
Stavinohova, Renata
;
Hartley, Claudia
;
Burmeister, Louise M.
...
PLOS ONE. 14 (2019) 8 - p. e0220761 , 2019
Link:
https://doi.org/10.1371/..
?
3
Whole Genome Sequencing of Giant Schnauzer Dogs with Progre..:
Hitti, Rebekkah J.
;
Oliver, James A. C.
;
Schofield, Ellen C.
...
Genes. 10 (2019) 5 - p. 385 , 2019
Link:
https://doi.org/10.3390/..
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4
Canine genome assembly correction facilitates identificatio..:
Forman, Oliver P.
;
Hitti, Rebekkah J.
;
Boursnell, Mike
...
Mammalian Genome. 27 (2016) 5-6 - p. 237-245 , 2016
Link:
https://doi.org/10.1007/..
?
5
Genome sequencing reveals a splice donor site mutation in t..:
Fenn, Joe
;
Boursnell, Mike
;
Hitti, Rebekkah J.
...
BMC Genetics. 17 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1186/..
?
6
Genetic screening for PRA‐associated mutations in multiple ..:
Downs, Louise M.
;
Hitti, Rebekkah
;
Pregnolato, Silvia
.
Veterinary Ophthalmology. 17 (2013) 2 - p. 126-130 , 2013
Link:
https://doi.org/10.1111/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
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13
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/..
?
14
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/..
?
15
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/..
1-15