E-LIB Suche - Ergebnisse für: Runhart, Esmee H.

1

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/..

2

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/..

3

Correlation of Morphology and Function of Flecks Using Shor..:

Dhooge, Patty P. A. ; Runhart, Esmee H. ; Lambertus, Stanley...
Translational Vision Science & Technology. 10 (2021) 3 - p. 18 , 2021

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

4

Systemic complement activation levels in Stargardt disease:

Dhooge, Patty P. A. ; Runhart, Esmee H. ; Li, Catherina H. Z....
PLOS ONE. 16 (2021) 6 - p. e0253716 , 2021

Link: https://doi.org/10.1371/..

5

Resolving the dark matter of ABCA4 for 1054 Stargardt disea..:

Khan, Mubeen ; Cornelis, Stéphanie S. ; De Pozo-Valero, Marta l...
Genetics in Medicine. 22 (2020) 7 - p. 1235-1246 , 2020

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

6

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABC..:

Runhart, Esmee H. ; Valkenburg, Dyon ; Cornelis, Stéphanie S....
Investigative Opthalmology & Visual Science. 60 (2019) 13 - p. 4249 , 2019

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

7

Deep-intronic ABCA4 variants explain missing heritability i..:

Sangermano, Riccardo ; Garanto, Alejandro ; Khan, Mubeen...
Genetics in Medicine. 21 (2019) 8 - p. 1751-1760 , 2019

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

8

Author Response: Penetrance of theABCA4p.Asn1868Ile Allele ..:

Cremers, Frans P. M. ; Cornelis, Stéphanie S. ; Runhart, Esmee H..
Investigative Opthalmology & Visual Science. 59 (2018) 13 - p. 5566 , 2018

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

9

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and..:

Runhart, Esmee H. ; Sangermano, Riccardo ; Cornelis, Stéphanie S....
Investigative Opthalmology & Visual Science. 59 (2018) 8 - p. 3220 , 2018

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

10

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..

11

Stargardt disease:monitoring incidence and diagnostic trend..:

Runhart, Esmee H ; Dhooge, Patty ; Meester-Smoor, Magda...
https://research.rug.nl/en/publications/d1fa83a0-e16a-4566-bb3d-3dab43fcd163. , 2022

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

12

Stargardt disease: monitoring incidence and diagnostic tren..:

Runhart, Esmee H ; Dhooge, Patty ; Meester‐Smoor, Magda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291619/. , 2021

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

13

Correlation of Morphology and Function of Flecks Using Shor..:

Dhooge, Patty P. A ; Runhart, Esmee H ; Lambertus, Stanley...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7991959/. , 2021

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

14

Association of Sex With Frequent and Mild ABCA4 Alleles in ..:

Runhart, Esmee H ; Khan, Mubeen ; Cornelis, Stéphanie S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441467/. , 2020

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

15

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABC..:

Runhart, Esmee H ; Valkenburg, Dyon ; Cornelis, Stephanie S...
https://research.rug.nl/en/publications/cd3c02c0-39e7-43fb-b30a-8a48fdecccec. , 2019

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