E-LIB Suche - Ergebnisse für: Janine Reurink

1

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

2

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100181 , 2023

Link: https://doi.org/10.1016/..

3

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/..

4

Usher syndrome type IV: clinically and molecularly confirme..:

Velde, Hedwig M. ; Reurink, Janine ; Held, Sebastian...
Human Genetics. 141 (2022) 11 - p. 1723-1738 , 2022

Link: https://doi.org/10.1007/..

5

Minigene-Based Splice Assays Reveal the Effect of Non-Canon..:

Reurink, Janine ; Oostrik, Jaap ; Aben, Marco...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 13343 , 2022

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

6

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cy..:

Reurink, Janine ; de Vrieze, Erik ; Li, Catherina H. Z....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

7

Biallelic variants in coenzyme Q10 biosynthesis pathway gen..:

Jurkute, Neringa ; Cancellieri, Francesca ; Pohl, Lisa...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

8

Efficient Generation of Knock-In Zebrafish Models for Inher..:

de Vrieze, Erik ; de Bruijn, Suzanne E. ; Reurink, Janine...
International Journal of Molecular Sciences. 22 (2021) 17 - p. 9429 , 2021

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

9

Molecular Inversion Probe-Based Sequencing of USH2A Exons a..:

Reurink, Janine ; Dockery, Adrian ; Oziębło, Dominika...
International Journal of Molecular Sciences. 22 (2021) 12 - p. 6419 , 2021

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

10

Table5_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.s006. , 2023

Link: https://doi.org/10.3389/..

11

Table3_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.s004. , 2023

Link: https://doi.org/10.3389/..

12

Table4_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.s005. , 2023

Link: https://doi.org/10.3389/..

13

Table2_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.s003. , 2023

Link: https://doi.org/10.3389/..

14

Table8_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.s009. , 2023

Link: https://doi.org/10.3389/..

15

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

Daan M. Panneman ; Rebekkah J. Hitti-Malin ; Lara K. Holtes...
https://www.frontiersin.org/articles/10.3389/fcell.2023.1112270/full. , 2023

Link: https://doi.org/10.3389/..