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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 22, 2017
Neurological and spinal manifestations of the Ehlers-Danlos syndromesFraser C Henderson, Claudiu Austin, Edward Benzel, et al.
Ophthalmic Genetics|September 12, 2024
Ophthalmic findings in Alström syndromeYiyun Zhou, Tarek Saad Shoala, Antonie D Kline, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2003
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1Ruth M Liberfarb, Howard P Levy, Peter S Rose, et al.
American Journal of Human Genetics|April 10, 2002
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasiaEri Arikawa-Hirasawa, Alexander H Le, Ichizo Nishino, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 2, 2022
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulationPatrick M Schaefer, Leonardo Scherer Alves, Maria Lvova, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 16, 2014
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue featuresSanthi K Ganesh, Rachel Morissette, Zhi Xu, et al.
American Journal of Medical Genetics|October 3, 2002
The mutational spectrum of brachydactyly type CDavid B Everman, Cynthia F Bartels, Yue Yang, et al.
Orphanet Journal of Rare Diseases|September 22, 2020
Consensus clinical management guidelines for Alström syndromeNatascia Tahani, Pietro Maffei, Hélène Dollfus, et al.
American Journal of Human Genetics|April 3, 2018
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos SyndromePatrick R Blackburn, Zhi Xu, Kathleen E Tumelty, et al.
Iscience|September 15, 2025
KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndromeCortney Gensemer, Taylor Petrucci, Tyler Beck, et al.
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