E-LIB Suche - Ergebnisse für: Kroes, Hester Y.

1

Utilization of automated cilia analysis to characterize nov..:

Whiting, Kae R. ; Haer-Wigman, Lonneke ; Florijn, Ralph J....
European Journal of Human Genetics. , 2024

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

2

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics. , 2024

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

3

Phylogenetic analysis of museum specimens of houting Corego..:

Kroes, R. ; Winkel, Y. ; Breeuwer, J. A. J....
BMC Ecology and Evolution. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

4

A homozygous POLR1A variant causes leukodystrophy and affec..:

Misceo, Doriana ; Lirussi, Lisa ; Strømme, Petter...
Brain. 146 (2023) 8 - p. 3513-3527 , 2023

Link: https://doi.org/10.1093/..

5

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023

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

6

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

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918427/. , 2023

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

7

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

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
https://research.rug.nl/en/publications/33968473-8cf1-49e9-85da-4089312f325a. , 2023

Link: https://hdl.handle.net/1..

8

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

Janine Reurink ; Nicole Weisschuh ; Alejandro Garanto...
http://www.sciencedirect.com/science/article/pii/S2666247723000131. , 2023

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

9

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to ..:

Vázquez-Domínguez, Irene ; Duijkers, Lonneke ; Fadaie, Zeinab...
Cells. 11 (2022) 22 - p. 3640 , 2022

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

10

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gen..:

Haer-Wigman, Lonneke ; den Ouden, Amber ; van Genderen, Maria M....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

11

Generation of a patient-derived induced pluripotent cell li..:

Vázquez-Domínguez, Irene ; Kwint, Michael ; Kroes, Hester Y...
Stem Cell Research. 60 (2022) - p. 102689 , 2022

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

12

Bilateral posterior lamellar corneal transplant surgery in ..:

Muijzer, Marc B. ; Kroes, Hester Y. ; van Hasselt, Peter M..
Clinical Case Reports. 10 (2022) 4 - p. , 2022

Link: https://doi.org/10.1002/..

13

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to ..:

Irene Vázquez-Domínguez ; Lonneke Duijkers ; Zeinab Fadaie...
Cell and Gene Therapy. , 2022

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

14

Stargardt disease:monitoring incidence and diagnostic trend..:

Runhart, Esmee H ; Dhooge, Patty ; Meester-Smoor, Magda...
Runhart , E H , Dhooge , P , Meester-Smoor , M , Pas , J , Pott , J W R , van Leeuwen , R , Kroes , H Y , Bergen , A A , de Jong-Hesse , Y , Thiadens , A A , van Schooneveld , M J , van Genderen , M , Boon , C , Klaver , C , van den Born , L I , Cremers , F P M & Hoyng , C B 2022 , ' Stargardt disease : monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry ' , Acta Ophthalmologica , vol. 100 , pp. 395-402 . https://doi.org/10.1111/aos.14996. , 2022

Link: https://pure.knaw.nl/por..

15

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to ..:

Irene Vázquez-Domínguez ; Lonneke Duijkers ; Zeinab Fadaie...
https://www.mdpi.com/2073-4409/11/22/3640. , 2022

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