المؤلفون: Yujing Gong, Weijian Zhu, Mianmian Zhu, Dan Chen, Sunke Wu, Sisi Hu, Yi Luo, Yiyi Jiang, Ting Zhu, Dan Wang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: Stickler syndrome, functional analysis, COL2A1 gene, intron heterozygote variant, type II collagenopathies, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1308737/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/63e3e3f513d44b9d9db7c02a73571eca

المؤلفون: Ma, Jian, Zhang, Ye, Ding, Xiaoxiao, Liang, Zhijiang, Yang, Chaoxiang, Deng, Zhi, He, Hui, Guan, Zhihong, Zeng, Chunhua^{Aff6, IDs00223023011040_cor9}, Lin, Yunting^{Aff6, IDs00223023011040_cor10}, Luo, Xianqiong^{Aff2, IDs00223023011040_cor11}

المصدر: Calcified Tissue International: and Musculoskeletal Research. 113(3):266-275

المؤلفون: Faye Huang, Tzu-Jou Wang, Wan-Hua Cho, Yi-Hao Chen, Pei-Chang Wu, Hsi-Kung Kuo

المصدر: Taiwan Journal of Ophthalmology, Vol 12, Iss 4, Pp 423-429 (2022)

مصطلحات موضوعية: cleft palate, col2a1 gene, myopia, next-generation sequencing, single nucleotide variant, stickler syndrome, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.e-tjo.org/article.asp?issn=2211-5056;year=2022;volume=12;issue=4;spage=423;epage=429;aulast=Huang; https://doaj.org/toc/2211-5056; https://doaj.org/toc/2211-5072

URL الوصول: https://doaj.org/article/103ccc097478414a9a0e185f6d98c784

المؤلفون: Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Type II collagenopathies, COL2A1 gene, Whole-exome sequencing, Novel variant, Rare complex syndrome, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/9c8279160a45475284a3b828201879f5

المؤلفون: Fu-Chieh Chu, Ling-Yien Hii, Tai-Ho Hung, Liang-Ming Lo, T'sang-T'ang Hsieh, Steven W. Shaw

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 2, Pp 359-362 (2021)

مصطلحات موضوعية: COL2A1 gene, Skeletal dysplasia, Short extremities, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455921000176; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/28a0a762a12f411199af8f3f4c9870dc

المؤلفون: Zhang, Qianwen^{Aff1, Aff3}, Yao, Ruen, Li, Qun, Li, Xin, Feng, Biyun, Chang, Guoying, Wang, Jian, Wang, Xiumin^{Aff1, Aff3}

المصدر: BMC Medical Genomics. 14(1)

المؤلفون: Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 235-238 (2019)

مصطلحات موضوعية: col2a1 gene, type ii collagen, spondyloepiphyseal dysplasia congenita, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/col2a1-gene-mutations-mechanisms-of-spondyloepiphyseal-dysplasia-conge-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/33af92c674b6464ebdd1420cc78f8e27

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المؤلفون: Chornenka, N. M.^Aff1, Raetska, Ya. B., Dranitsina, A. S., Kalmukova, O. O., Beregova, T. V., Dzerzhynsky, M. E., Savchuk, O. M., Ostapchenko, L. I.

المصدر: Cytology and Genetics. 54(4):333-340

المؤلفون: Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev

المصدر: Genes, Vol 13, Iss 1, p 137 (2022)

مصطلحات موضوعية: collagenopathy type II, COL2A1 gene, exome sequencing, novel variants, skeletal dysplasia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/13/1/137; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/2d294b11acb744a2820862747d4aed6c