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Laboratory Investigation; a Journal of Technical Methods and Pathology|April 7, 2010
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndromeOlivier M Vanakker, Ludovic Martin, Leon J Schurgers, et al.The Laryngoscope|January 19, 2012
Association between bone mineral density and hearing loss in osteogenesis imperfectaFreya K R Swinnen, Els M R De Leenheer, Stefan Goemaere, et al.The Journal of Investigative Dermatology|September 30, 2014
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticumMohammad J Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|March 14, 2014
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndromeFrançoise M J Roulez, Fran Faes, Patricia Delbeke, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 6, 2021
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR-Based Functional Screening of Osteoporosis Candidate GenesJan Willem Bek, Chen Shochat, Adelbert De Clercq, et al.The Journal of Biological Chemistry|August 27, 2022
G protein-coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulinMatthew J Varney, Wouter Steyaert, Paul J Coucke, et al.Molecular Genetics & Genomic Medicine|November 19, 2017
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected familiesOsama Essawi, Sofie Symoens, Maha Fannana, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 7, 2015
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis ImperfectaDelfien Syx, Brecht Guillemyn, Sofie Symoens, et al.Elife|January 16, 2025
Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragilitySophie Debaenst, Tamara Jarayseh, Hanna De Saffel, et al.American Journal of Human Genetics|June 15, 2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaFrauke Coppieters, Bart P Leroy, Diane Beysen, et al.Pageof 11