Janneke H. Hoeijmakers-Schuurs
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Journal: Clinical immunology (Orlando, Fla.)
Published: June 11, 2024
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.
Journal: Journal of clinical pathology
Published: May 13, 2022
Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.
Journal: Clinical & translational immunology
Published: November 15, 2020
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Journal: European journal of human genetics : EJHG
Published: June 21, 2017
Duplications of SLC1A3: Associated with ADHD and autism.
Journal: European journal of medical genetics
Published: April 07, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Journal: American journal of human genetics
Published: December 11, 2015
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Journal: European journal of human genetics : EJHG
Published: June 04, 2015
Disruptive CHD8 mutations define a subtype of autism early in development.
Journal: Cell
Published: January 29, 2014
Showing 1-9 of 9
Last Updated: 09/26/2026