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

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

Stargardt disease: monitoring incidence and diagnostic tren..:

Runhart, Esmee H. ; Dhooge, Patty ; Meester‐Smoor, Magda...
Acta Ophthalmologica. 100 (2021) 4 - p. 395-402 , 2021

Link: https://doi.org/10.1111/..

9

The phenotypic and genetic spectrum of patients with hetero..:

Franken, Gijs A. C. ; Müller, Dominik ; Mignot, Cyril...
Human Mutation. 42 (2021) 4 - p. 473-486 , 2021

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

10

De novo and biallelic DEAF1 variants cause a phenotypic spe..:

Nabais Sá, Maria J. ; Jensik, Philip J. ; McGee, Stacey R....
Genetics in Medicine. 21 (2019) 9 - p. 2059-2069 , 2019

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

11

Healthcare recommendations for Joubert syndrome:

Bachmann‐Gagescu, Ruxandra ; Dempsey, Jennifer C. ; Bulgheroni, Sara...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 229-249 , 2019

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

12

Clinical and genetic analyses of a Dutch cohort of 40 patie..:

Stokman, Marijn F. ; van der Zwaag, Bert ; van de Kar, Nicole C. A. J....
Pediatric Nephrology. 33 (2018) 10 - p. 1701-1712 , 2018

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

13

Clinical Characterization of 66 Patients With Congenital Re..:

Valkenburg, Dyon ; van Cauwenbergh, Caroline ; Lorenz, Birgit...
Investigative Opthalmology & Visual Science. 59 (2018) 11 - p. 4384 , 2018

Link: https://doi.org/10.1167/..

14

Refining the phenotype associated with GNB1 mutations: Clin..:

Hemati, Parisa ; Revah‐Politi, Anya ; Bassan, Haim...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2259-2275 , 2018

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

15

Heterozygous loss-of-function variants of MEIS2 cause a tri..:

DDD study ; Verheije, Rosalind ; Kupchik, Gabriel S....
European Journal of Human Genetics. 27 (2018) 2 - p. 278-290 , 2018

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