Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and COL1A1[original query] |
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Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011 Feb 26 (2): 405-13. Cheung Moira S, Arponen Heidi, Roughley Peter, Azouz Michel E, Glorieux Francis H, Waltimo-Sirén Janna, Rauch Fra |
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 |
CARDIOVASCULAR SYSTEM AND MUSCULOSKELETAL CHANGES OF THE SPORTSMEN WITH POLYMORPHISMS OF COL1A1 GENE. Georgian medical news 2018 Sep (282): 95-99. Nekhanevych ?, Zhyliuk V, Logvinenko V, Onul N, Khomiak |
Developmental dysplasia of the hip: a systematic literature review of the genes related with its occurrence. EFORT open reviews 2019 11 4 (10): 595-601. Gkiatas Ioannis, Boptsi Anastasia, Tserga Dimitra, Gelalis Ioannis, Kosmas Dimitrios, Pakos Emili |
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
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 |
Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta. Frontiers in endocrinology 2022 11 13 1004946. Zhao Dichen, Liu Yongtai, Liu Jidong, Hu Jing, Zhang Qian, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li M |
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