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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.RMD Open|November 8, 2018
Ehlers-Danlos syndromes: state of the art on clinical practice guidelinesAlberto Sulli, Rosaria Talarico, Carlo Alberto Scirè, et al.Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.The Journal of Investigative Dermatology|March 15, 2024
NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen FibrillogenesisMélanie Salamito, Benjamin Gillet, Delfien Syx, et al.Frontiers in Cell and Developmental Biology|December 28, 2020
<i>b3galt6</i> Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage RegionSarah Delbaere, Adelbert De Clercq, Shuji Mizumoto, et al.Human Genetics|January 25, 2023
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataractTamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, et al.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.International Journal of Molecular Sciences|March 16, 2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma OsteoplasticaAriana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, 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.Breast Cancer Research : BCR|May 18, 2016
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutationAnnelot Baert, Julie Depuydt, Tom Van Maerken, et al.Pageof 15