Marijn F. Stokman

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 19 publications

A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility.

A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility.

Journal: Human reproduction (Oxford, England)

Published: September 12, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Journal: Nephron

Published: December 21, 2024

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Journal: Andrology

Published: April 12, 2024

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Journal: Annals of neurology

Published: March 09, 2024

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Journal: European journal of human genetics : EJHG

Published: December 13, 2023

Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy.

Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy.

Journal: The Journal of pathology

Published: November 15, 2022

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.

Journal: Frontiers in cell and developmental biology

Published: January 13, 2021

Preimplantation Genetic Testing for Monogenic Kidney Disease.

Preimplantation Genetic Testing for Monogenic Kidney Disease.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: March 19, 2020

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Journal: Human molecular genetics

Published: August 06, 2018

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Journal: Pediatric nephrology (Berlin, Germany)

Published: December 09, 2017

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

Journal: Journal of proteomics

Published: December 06, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026