Catherina H Z Li

2PUBLICATIONS
28CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (2)

Sort by Publication Date:
|Feb 28, 2022
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.

Hedwig M Velde, Janine Reurink, Sebastian Held

|Apr 29, 2021
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Zeinab Fadaie, Laura Whelan, Adrian Dockery

Pageof 1

Frequent Collaborators

2 joint publications

Laura Whelan

2 joint publications

Adrian Dockery

2 joint publications

Susanne Roosing

2 joint publications

Gwyneth Jane Farrar

1 joint publications

Zeinab Fadaie

1 joint publications

L Ingeborgh van den Born

1 joint publications

Carel B Hoyng

1 joint publications

Christian Gilissen

1 joint publications

Ronald J E Pennings

1 joint publications

Charlie Rowlands

Frequent Collaborators

2 joint publications

Laura Whelan

2 joint publications

Adrian Dockery

2 joint publications

Susanne Roosing

2 joint publications

Gwyneth Jane Farrar

JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us

Top Related Videos

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA <em>In Situ</em> Hybridization Assay
10:57

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA <em>In Situ</em> Hybridization Assay

Published on : Aug 14, 2018

10.8K
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for <em>BEST1</em> Mutations
06:39

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for <em>BEST1</em> Mutations

Published on : Aug 24, 2018

6.9K
See more related videos

Top Related Videos

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA <em>In Situ</em> Hybridization Assay
10:57

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA <em>In Situ</em> Hybridization Assay

Published on : Aug 14, 2018

10.8K
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for <em>BEST1</em> Mutations
06:39

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for <em>BEST1</em> Mutations

Published on : Aug 24, 2018

6.9K
See more related videos