Etienne M. Janssen

Maastricht, LI 6229HX, Netherlands

Last Updated: 09/26/2026

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Found 9 publications

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances
Published: November 26, 2025

A Retrospective, Nationwide, Multicenter Study on Diagnosis and Treatment Outcome of Pediatric Optic Pathway/Hypothalamic Gliomas Including Analysis of Risk Factors for Progression After Systemic Anticancer Therapy.

A Retrospective, Nationwide, Multicenter Study on Diagnosis and Treatment Outcome of Pediatric Optic Pathway/Hypothalamic Gliomas Including Analysis of Risk Factors for Progression After Systemic Anticancer Therapy.

Journal: Cancers
Published: January 20, 2025

The importance of early recognition of Prader-Willi syndrome

The importance of early recognition of Prader-Willi syndrome

Journal: Nederlands tijdschrift voor geneeskunde
Published: May 15, 2024

Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1.

Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1.

Journal: Neuromuscular disorders : NMD
Published: July 04, 2023

Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma: A Retrospective Nationwide Multicentre Study.

Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma: A Retrospective Nationwide Multicentre Study.

Journal: Cancers
Published: November 04, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Journal: eLife
Published: March 08, 2022

Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency.

Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency.

Journal: Neurology
Published: February 25, 2021

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.

Journal: Clinical dysmorphology
Published: September 08, 2020

Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis.

Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis.

Journal: Fertility and sterility
Published: December 20, 2018
Showing 1-9 of 9

Last Updated: 09/26/2026