المؤلفون: Eleftheria Gkritzali, Elizabeth Akam, Sarabjit Mastana

المصدر: Journal of Research and Practice on the Musculoskeletal System, Vol 8, Iss 2, Pp 60-70 (2024)

مصطلحات موضوعية: col5a1 gene, meta-analysis, rs12722 polymorphism, musculoskeletal injuries, systematic review, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://www.jrpms.eu/Article.php?AID=jrpms_v08i02_060; https://doaj.org/toc/2585-2787

URL الوصول: https://doaj.org/article/a764f2e9220e436daf1c8d67a4148ee6

المؤلفون: Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, Seresini, Agostino, Bassotti, Alessandra

المصدر: Dermatology Online Journal. 24(7)

مصطلحات موضوعية: Ehlers-Danlos syndrome, COL5A1 gene, COL1A1 gene, next generation sequencing, haloplex target enrichment, bioinformatics analysis, vascular events

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/28c1g75m

المؤلفون: Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, Seresini, Agostino, Bassotti, Alessandra

المصدر: Dermatology Online Journal. 24(9)

مصطلحات موضوعية: Ehlers-Danlos syndrome, COL5A1 gene, COL1A1 gene, next generation sequencing, haloplex target enrichment, bioinformatics analysis, vascular events

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2mn589cf

المؤلفون: Takeaki Imamura, Takaki Omura, Nobuo Sasaki, Satoshi Arino, Haruna Nohara, Akira Saito, Maki Ichinose, Kazumasa Yamaguchi, Naoki Kojima, Hiroshi Inagawa, Katsutoshi Takahashi, Toshiyuki Unno, Hiroko Morisaki, Osamu Ishikawa, Gakushi Yoshikawa, Yasusei Okada

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: postpartum, pregnancy, cervicocephalic arterial dissection, quadruple, COL5A1 gene mutation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.928803/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/2a7740166a6c4cfaafbf5b9f312d2d92

المؤلفون: Wei-Ching Chiu, Shu-Huey Chen, Mei-Chen Lo, Yung-Ting Kuo

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Ehlers-Danlos syndrome classical type, Collagen type V alpha-1 chain (COL5A1) gene, COL5A1 frameshift mutation, Collagen type V heparin-binding, Bleeding diathesis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-020-02386-1; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/bae0d034be824b81b8693473a95a6f05

المؤلفون: V. Pushkarev, D. Dyatlov, R. Akhmetyanov, A. Chmutov, Y. Pushkareva, L. Pollyak

المصدر: Спортивная медицина: наука и практика, Vol 7, Iss 4, Pp 63-68 (2020)

مصطلحات موضوعية: 3'-нетранслируемая область, anterior cruciate ligament rupture, genetic predisposition, col5a1 gene, sequence variation rs12722 (c/t), 3'-untranslated region, Sports medicine, RC1200-1245

وصف الملف: electronic resource

Relation: https://www.smjournal.ru/jour/article/view/80; https://doaj.org/toc/2223-2524; https://doaj.org/toc/2587-9014

URL الوصول: https://doaj.org/article/a1f368dcc02c4e7980db198f2894d636

المؤلفون: Emily Deibert, Melissa Crenshaw, Michelle S. Miller

المصدر: Clinical Case Reports, Vol 7, Iss 4, Pp 607-611 (2019)

مصطلحات موضوعية: 9q34 duplication, 22q13 deletion, aortic dilation, COL5A1 gene, Phelan‐McDermid syndrome, SHANK3 gene, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/2fa4fdb0f6044e7489c226c6e00b0ebd

المؤلفون: Girdwood, Michael^Aff4, Docking, Sean^Aff4, Rio, Ebonie^Aff4, Cook, Jill^Aff4

المساهمون: Canata, Gian Luigi, editor^Aff1, d'Hooghe, Pieter, editor^Aff2, Hunt, Kenneth J., editor^Aff3

المصدر: Muscle and Tendon Injuries : Evaluation and Management. :23-44

المؤلفون: Chiu, Wei-Ching, Chen, Shu-Huey^{Aff1, Aff2, Aff3}, Lo, Mei-Chen^{Aff1, Aff4}, Kuo, Yung-Ting^{Aff1, Aff2}

المصدر: BMC Pediatrics. 20(1)

المؤلفون: September, Alison^Aff3, Rahim, Masouda^Aff3, Collins, Malcolm^Aff3

المساهمون: Ackermann, Paul W., editor^Aff1, Hart, David A., editor^Aff2

المصدر: Metabolic Influences on Risk for Tendon Disorders. 920:109-116