Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and COL2A1[original query] |
---|
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (London, England) 2015 Apr 29 (4): 475-82. Sergouniotis P I, Fincham G S, McNinch A M, Spickett C, Poulson A V, Richards A J, Snead M |
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Molecular vision 2016 22 697-704. Wang Xun, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Li Jie, Li Yadi, Wei Yantao, Liang Xiaoling, Guo Xiangmi |
Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions: A genetic association study and in silico analysis. Archives of oral biology 2022 7 142 105500. Kalmari Amin, Arash Valiollah, Colagar Abasalt Hosseinzad |
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita. Human genome variation 2022 5 9 (1): 16. Akahira-Azuma Moe, Enomoto Yumi, Nakamura Naoyuki, Yokoi Takayuki, Minatogawa Mari, Harada Noriaki, Tsurusaki Yoshinori, Kurosawa Ken |
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities. Gene 2023 10 892 147881. Z Spurná, P ?apková, L Punová, J DuchoslavovÁ, D Aleksijevic, P Venhá?ová, J Srovnal, J Štellmachová, V Curtisová, V Bitnerová, J Pet?ková, K Kola?íková, M Janíková, R Kratochvílová, P Vrt?l, R Vodi?ka, R Vrt?l, J Zapletalo |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: