Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Classical Ehlers-danlos Syndrome[original query] |
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A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. Arteriosclerosis, thrombosis, and vascular biology 2020 9 40 (11): 2686-2699. Richer Julie, Hill Hannah L, Wang Yu, Yang Min-Lee, Hunker Kristina L, Lane Jamie, Blackburn Susan, Coleman Dawn M, Eliason Jonathan, Sillon Guillaume, D'Agostino Maria-Daniela, Jetty Prasad, Mongeon François-Pierre, Laberge Anne-Marie, Ryan Stephen E, Fendrikova-Mahlay Natalia, Coutinho Thais, Mathis Michael R, Zawistowski Matthew, Hazen Stanley L, Katz Alexander E, Gornik Heather L, Brummett Chad M, Abecasis Goncalo, Bergin Ingrid L, Stanley James C, Li Jun Z, Ganesh Santhi |
Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome. Current issues in molecular biology 2022 Mar 44 (4): 1472-1478. Junkiert-Czarnecka Anna, Pilarska-Deltow Maria, B?k Aneta, Heise Marta, Latos-Biele?ska Anna, Zaremba Jacek, Bartoszewska-Kubiak Alicja, Haus Ol |
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