Marianne Van Tienhoven
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Journal: Scientific reports
Published: November 11, 2024
Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.
Journal: Laboratory investigation; a journal of technical methods and pathology
Published: April 11, 2023
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Journal: Ophthalmology science
Published: May 27, 2022
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Journal: Human molecular genetics
Published: January 27, 2022
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Journal: Human mutation
Published: May 06, 2021
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Journal: European journal of human genetics : EJHG
Published: August 14, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Journal: European journal of human genetics : EJHG
Published: February 18, 2014
NPHP4 variants are associated with pleiotropic heart malformations.
Journal: Circulation research
Published: May 03, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026