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Drug Discovery Today|May 16, 2024
An exploration of alternative therapeutic targets for aortic disease in Marfan syndromeLotte J F Van Den Heuvel, Silke Peeters, Josephina A N Meester, et al.
American Journal of Medical Genetics. Part A|March 7, 2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndromeSofie Symoens, Wouter Steyaert, Lynn Demuynck, et al.
Clinical Implant Dentistry and Related Research|July 29, 2014
An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant FailureJan Cosyn, Véronique Christiaens, Vincent Koningsveld, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 27, 2022
Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2Wouter Steyaert, Matthew J Varney, Jeffrey L Benovic, et al.
Clinical Dysmorphology|April 7, 2017
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature reviewMehmet B Duz, Emre Kirat, Paul J Coucke, et al.
The British Journal of Ophthalmology|September 4, 2009
Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticumJulie De Zaeytijd, Olivier M Vanakker, Paul J Coucke, 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.
BMC Research Notes|August 10, 2014
Illumina sequencing of 15 deafness genes using fragmented ampliconsFilip Van Nieuwerburgh, Sarah De Keulenaer, Joachim De Schrijver, et al.
Journal of Pediatric Genetics|September 15, 2016
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 geneVirendra Mehar, Dinesh Yadav, Ravindra Kumar, et al.
Human Molecular Genetics|January 19, 2019
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaBrecht Guillemyn, Hülya Kayserili, Lynn Demuynck, et al.
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