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European Journal of Case Reports in Internal Medicine|May 14, 2026
Novel Phenotype due to KCNJ11 Pathogenic Variant Associated with Maturity-Onset Diabetes of the Young-KCNJ-11Michiel Reunes, Imke Matthys, Tim Van Damme
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2017
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic reviewSanne D'hondt, Tim Van Damme, Fransiska Malfait
Genes|February 25, 2022
The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of MetabolismTim Van Damme, Marlies Colman, Delfien Syx, et al.
Acta Clinica Belgica|July 5, 2022
Shunt Nephritis: A Case of Mistaken IdentityTim Van Damme, Nic Veys, Marijn M Speeckaert, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|December 22, 2019
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndromeSarah Delbaere, Tim Van Damme, Delfien Syx, et al.
JIMD Reports|September 14, 2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndromeMahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, et al.
Neurology|April 5, 2015
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorderPatrick Santens, Tim Van Damme, Wouter Steyaert, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature reviewMarlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, et al.
Oncology Reports|February 11, 2017
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assayAnnelot Baert, Julie Depuydt, Tom Van Maerken, et al.
Plos Genetics|February 1, 2021
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfectaDelfien Syx, Yoshihiro Ishikawa, Jan Gebauer, et al.
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