Rogier Kersseboom
Middelharnis, ZH, Netherlands
Last Updated: 09/26/2026
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Found 17 publications
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Journal: Clinical genetics
Published: February 26, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Journal: Clinical genetics
Published: February 26, 2026
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Journal: medRxiv : the preprint server for health sciences
Published: January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Journal: Genome medicine
Published: December 12, 2023
Hypertension with hidden causes: the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion.
Journal: Journal of hypertension
Published: September 12, 2023
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.
Journal: Journal of clinical medicine
Published: October 25, 2021
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome.
Journal: Journal of clinical medicine
Published: July 01, 2021
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 15, 2020
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2018
Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.
Journal: Molecular genetics & genomic medicine
Published: February 27, 2018
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
Journal: Clinical genetics
Published: December 09, 2016
Last Updated: 09/26/2026