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American Journal of Medical Genetics. Part A|July 22, 2014
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing countrySheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, et al.Neuromuscular Disorders : NMD|June 18, 2013
Compound heterozygous mutations of the TNXB gene cause primary myopathyIsabelle Pénisson-Besnier, Valérie Allamand, Philippe Beurrier, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis typeTim Van Damme, Alain Colige, Delfien Syx, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.Frontiers in Molecular Neuroscience|September 4, 2023
Analysis of matrisome expression patterns in murine and human dorsal root gangliaRobin Vroman, Rahel S Hunter, Matthew J Wood, et al.Matrix Biology : Journal of the International Society for Matrix Biology|March 20, 2018
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse modelSanne D'hondt, Brecht Guillemyn, Delfien Syx, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 18, 2023
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone DevelopmentBrecht Guillemyn, Hanna De Saffel, Jan Willem Bek, et al.American Journal of Human Genetics|May 14, 2013
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorderFransiska Malfait, Ariana Kariminejad, Tim Van Damme, et al.Human Mutation|March 19, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeTibbe Dhooge, Tim Van Damme, Delfien Syx, et al.Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.Pageof 6