Linda C. Zuurbier
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 22 publications
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.
Journal: Clinical genetics
Published: October 07, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C > A: p. (Ala170Asp).
Journal: Journal of clinical lipidology
Published: June 14, 2024
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: April 26, 2024
Enhanced identification of familial hypercholesterolemia using central laboratory algorithms.
Journal: Atherosclerosis
Published: February 14, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Journal: American journal of human genetics
Published: November 01, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Journal: Circulation. Genomic and precision medicine
Published: September 07, 2023
Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia.
Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia.
Journal: Atherosclerosis
Published: September 06, 2022
Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.
Journal: Genes
Published: June 20, 2021
Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia.
Journal: Atherosclerosis
Published: May 26, 2021
Last Updated: 09/26/2026