المؤلفون: Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, Wen-Tao He

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Col11a2, splicing mutation, case report, type 3 Stickler syndrome, genetic counseling, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1154087/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0651f81d43d04cea899c7b6b3d73ce42

المؤلفون: Lijuan Huang, Maosheng Guo, Ningdong Li

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: waardenburg syndrome, exotropia, PAX3, SOX10, COL11A2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.969680/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/bb3b3d351e9343b79328527c84f62e4c

المؤلفون: Yang Q, Zhou Y, Cai P, Fu W, Wang J, Wei Q, Li X

المصدر: Drug Design, Development and Therapy, Vol Volume 13, Pp 2503-2512 (2019)

مصطلحات موضوعية: microRNA-23b-3p, osteoarthritis, IL-1β, COL11A2, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/downregulation-of-microrna-23b-3p-alleviates-il-1beta-induced-injury-i-peer-reviewed-article-DDDT; https://doaj.org/toc/1177-8881

URL الوصول: https://doaj.org/article/781a193367e744d0ab49273db66674cf

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المؤلفون: Petar Brlek, Darko Antičević, Vilim Molnar, Vid Matišić, Kristina Robinson, Swaroop Aradhya, Dalibor Krpan, Dragan Primorac

المصدر: Genes, Vol 12, Iss 12, p 1851 (2021)

مصطلحات موضوعية: osteogenesis imperfecta, X-linked osteoporosis, pathological fracture, PLS3, FN1, COL11A2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/12/1851; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/cd88afd573d24e4aaac2440a8de5b1b1

المؤلفون: Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori

المصدر: Genes, Vol 11, Iss 12, p 1513 (2020)

مصطلحات موضوعية: COL11A1, COL11A2, stickler syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/11/12/1513; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/6a629d2dec834d17a87ac95e0256f9b6

المؤلفون: Kim, Sang-Joo, Park, Hong-Joon, Sagong, Borum, Bae, Seung-Hyun, Oh, Se-Kyung, Baek, Jeong-In, Choi, Jae Young, Lee, Kyu-Yup, Kim, Un-Kyung

المصدر: Genes & Genomics. October 2016 38(10):961-966

المؤلفون: Yokoi, Hayato^Aff4, Postlethwait, John H.^Aff5

المساهمون: Naruse, Kiyoshi, editor^Aff1, Tanaka, Minoru, editor^Aff2, Takeda, Hiroyuki, editor^Aff3

المصدر: Medaka : A Model for Organogenesis, Human Disease, and Evolution. :323-337

Degree: Ph.D.

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المؤلفون: Chakchouk, Imen, Grati, M’hamed, Bademci, Guney, Bensaid, Mariem, Ma, Qi, Chakroun, Amine, Foster, II, Joseph, Yan, Denise, Duman, Duygu, Diaz-Horta, Oscar, Ghorbel, Abdelmonem, Mittal, Rahul, Farooq, Amjad, Tekin, Mustafa, Masmoudi, Saber, Liu, Xue Zhong

المصدر: Molecular Genetics and Genomics. August 2015 290(4):1327-1334