Onderzoeker
Tim Van Damme
- Disciplines:Klinische genetica en moleculaire diagnostiek, Epigenetica, Immunogenetica, Genetica
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 20 sep 2020 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 sep 2012 → 30 sep 2018
Publicaties
1 - 10 van 30
- Shunt nephritis : a case of mistaken identity(2023)
Auteurs: Tim Van Damme, Nic Veys, Marijn Speeckaert, Sigurd E. Delanghe
Pagina's: 248 - 253 - Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome(2022)
Auteurs: Mahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, Tim Van Damme, Olivier Kaye, Fransiska Malfait, Göran Larson
Pagina's: 462 - 467 - The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism(2022)
Auteurs: Tim Van Damme, Marlies Colman, Delfien Syx, Fransiska Malfait
- Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta(2021)
Auteurs: Delfien Syx, Yoshihiro Ishikawa, Jan Gebauer, Sergei P. Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B. Gould, et al.
- More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome(2021)
Auteurs: Tibbe Dhooge, Tim Van Damme, Sheela Nampoothiri, Anil Radhakrishnan, Pelin O. Simsek-Kiper, Gulen E. Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, et al.
Pagina's: 711 - 730 - Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome(2020)
Auteurs: Sarah Delbaere, Tim Van Damme, Delfien Syx, Sofie Symoens, Paul Coucke, Andy Willaert, Fransiska Malfait
Pagina's: 59 - 75 - Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)(2020)
Auteurs: Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.
Pagina's: 374 - 374 - The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review(2019)
Auteurs: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
- The Ehlers-Danlos syndromes : expanding, redefining and reviewing the spectrum(2019)
Auteurs: Tim Van Damme
- Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model(2018)
Auteurs: Sarah Delbaere, Tim Van Damme, Fransiska Malfait
Aantal pagina's: 1