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Li, Catherina H.Z.
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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/..
 
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2

Preclinical Development of Antisense Oligonucleotides to Re..:

Suárez-Herrera, Nuria ; Li, Catherina H. Z. ; Leijsten, Nico...
Cells.  13 (2024)  7 - p. 601 , 2024
Link: https://doi.org/10.3390/..
 
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3

Towards Uncovering the Role of Incomplete Penetrance in Mac..:

Hitti-Malin, Rebekkah J. ; Panneman, Daan M. ; Corradi, Zelia...
Biomolecules.  14 (2024)  3 - p. 367 , 2024
Link: https://doi.org/10.3390/..
 
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4

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/..
 
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5

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/..
 
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6

Identification of a Complex Allele in IMPG2 as a Cause of A..:

Vázquez-Domínguez, Irene ; Li, Catherina H. Z. ; Fadaie, Zeinab...
Investigative Opthalmology & Visual Science.  63 (2022)  5 - p. 27 , 2022
Link: https://doi.org/10.1167/..
 
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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/..
 
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8

The Phenotypic Spectrum of Patients with PHARC Syndrome Due..:

Nguyen, Xuan-Thanh-An ; Almushattat, Hind ; Strubbe, Ine...
Genes.  12 (2021)  9 - p. 1404 , 2021
Link: https://doi.org/10.3390/..
 
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9

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/..
 
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10

Is arterial stiffness in the carotid artery associated with..:

Risseeuw, Sara ; Bartstra, Jonas ; Ossewaarde – van Norel, Jeannette...
Acta Ophthalmologica.  98 (2020)  5 - p. 492-499 , 2020
Link: https://doi.org/10.1111/..
 
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11

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...
 
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12

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..
 
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13

Biallelic variants in coenzyme Q10 biosynthesis pathway gen..:

Jurkute, Neringa ; Cancellieri, Francesca ; Pohl, Lisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581764/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

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

Reurink, Janine ; de Vrieze, Erik ; Li, Catherina H. Z...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174243/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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15

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

Velde, Hedwig M ; Reurink, Janine ; Held, Sebastian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556359/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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