Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

L Ingeborgh van den Born

3PUBLICATIONS

172CO-AUTHORS

Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Neurogenetics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Jan 20, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jul 02, 2021

Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

Janine Reurink, Adrian Dockery, Dominika Oziębło

|Apr 29, 2021

<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Zeinab Fadaie, Laura Whelan, Adrian Dockery

Pageof 1

Frequent Collaborators

3 joint publications

Susanne Roosing

3 joint publications

Gwyneth Jane Farrar

3 joint publications

Frans P M Cremers

2 joint publications

Monika Ołdak

2 joint publications

Laura Whelan

2 joint publications

Adrian Dockery

2 joint publications

Carel B Hoyng

2 joint publications

Christian Gilissen

2 joint publications

Jamie M Ellingford

1 joint publications

Catherina H Z Li

Frequent Collaborators

3 joint publications

Susanne Roosing

3 joint publications

Gwyneth Jane Farrar

3 joint publications

Frans P M Cremers

2 joint publications

Monika Ołdak

Top Related Videos

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on : Dec 12, 2014

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on : Sep 15, 2021

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

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

See more related videos

Top Related Videos

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on : Dec 12, 2014

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on : Sep 15, 2021

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

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

See more related videos