Lisette Leeuwen
Groningen, GR, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Journal: HGG advances
Published: February 27, 2025
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 18, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Journal: European journal of human genetics : EJHG
Published: November 09, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026