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Rodenburg, Kim
28
results:
Search for persons
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Online (28)
Mediatypes
Articles (Online) (7)
Bookchapter (Online) (1)
OpenAccess-fulltext (20)
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?
1
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/..
?
2
Whole genome sequencing identifies elusive variants in gene..:
Zeuli, Roberta
;
Karali, Marianthi
;
de Bruijn, Suzanne E.
...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100314 , 2024
Link:
https://doi.org/10.1016/..
?
3
Loss-of-function variants in UBAP1L cause autosomal recessi..:
Han, Ji Hoon
;
Rodenburg, Kim
;
Hayman, Tamar
...
Genetics in Medicine. 26 (2024) 6 - p. 101106 , 2024
Link:
https://doi.org/10.1016/..
?
4
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/..
?
5
ABCA4 c.6480-35A>G, a novel branchpoint variant associated ..:
Rodríguez-Hidalgo, María
;
de Bruijn, Suzanne E.
;
Corradi, Zelia
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
6
Combined Single Gene Testing and Genome Sequencing as an Ef..:
Basharat, Rabia
;
Rodenburg, Kim
;
Rodríguez-Hidalgo, María
...
Genes. 14 (2023) 8 - p. 1573 , 2023
Link:
https://doi.org/10.3390/..
?
7
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..
?
8
Image1_ABCA4 c.6480-35A>G, a novel branchpoint variant asso..:
María Rodríguez-Hidalgo
;
Suzanne E. de Bruijn
;
Zelia Corradi
...
doi:10.3389/fgene.2023.1234032.s001. , 2023
Link:
https://doi.org/10.3389/..
?
9
Combined Single Gene Testing and Genome Sequencing as an Ef..:
Rabia Basharat
;
Kim Rodenburg
;
María Rodríguez-Hidalgo
...
https://www.mdpi.com/2073-4425/14/8/1573. , 2023
Link:
https://doi.org/10.3390/..
?
10
Image1_ABCA4 c.6480-35A>G, a novel branchpoint variant asso..:
María Rodríguez-Hidalgo
;
Suzanne E. de Bruijn
;
Zelia Corradi
...
doi:10.3389/fgene.2023.1234032.s001. , 2023
Link:
https://doi.org/10.3389/..
?
11
Combined Single Gene Testing and Genome Sequencing as an Ef..:
Rabia Basharat
;
Kim Rodenburg
;
María Rodríguez-Hidalgo
...
Genetic Diagnosis. , 2023
Link:
https://doi.org/10.3390/..
?
12
ABCA4 c.6480-35A>G, a novel branchpoint variant associated ..:
María Rodríguez-Hidalgo
;
Suzanne E. de Bruijn
;
Zelia Corradi
...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1234032/full. , 2023
Link:
https://doi.org/10.3389/..
?
13
Table1_ABCA4 c.6480-35A>G, a novel branchpoint variant asso..:
María Rodríguez-Hidalgo
;
Suzanne E. de Bruijn
;
Zelia Corradi
...
doi:10.3389/fgene.2023.1234032.s002. , 2023
Link:
https://doi.org/10.3389/..
?
14
Table1_ABCA4 c.6480-35A>G, a novel branchpoint variant asso..:
María Rodríguez-Hidalgo
;
Suzanne E. de Bruijn
;
Zelia Corradi
...
doi:10.3389/fgene.2023.1234032.s002. , 2023
Link:
https://doi.org/10.3389/..
?
15
Prevalence and Clinical Course in Invasive Infections with ..:
Rodenburg, Gerwin D.
;
Fransen, Floris
;
Bogaert, Debby
...
PLoS ONE. 7 (2012) 11 - p. e49295 , 2012
Link:
https://doi.org/10.1371/..
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