L Ingeborgh van den Born

3PUBLICATIONS
172CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (3)

|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 USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

Janine Reurink, Adrian Dockery, Dominika Oziębło

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

Zeinab Fadaie, Laura Whelan, Adrian Dockery

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