Genetics of Skeletal Disorders
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/164_2020_350
Reference114 articles.
1. Adamska M, MacDonald BT, Sarmast ZH, Oliver ER, Meisler MH (2004) En1 and Wnt7a interact with Dkk1 during limb development in the mouse. Dev Biol 272:134–144. https://doi.org/10.1016/j.ydbio.2004.04.026
2. Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76:7–20. https://doi.org/10.1002/0471142905.hg0720s76
3. Ai M, Heeger S, Bartels CF, Schelling DK, Osteoporosis-Pseudoglioma Collaborative G (2005) Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet 77:741–753. https://doi.org/10.1086/497706
4. Arvai K et al (2016) Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice. Sci Rep 6:28417. https://doi.org/10.1038/srep28417
5. Asharani PV et al (2012) Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet 90:661–674. https://doi.org/10.1016/j.ajhg.2012.02.026
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Molecular mechanisms of environmental pollutant-induced cartilage damage: from developmental disorders to osteoarthritis;Archives of Toxicology;2024-05-17
2. Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date;American Journal of Medical Genetics Part A;2024-05-03
3. The health-care utilization and economic burden in patients with genetic skeletal disorders;Orphanet Journal of Rare Diseases;2024-03-04
4. SGMS2 in primary osteoporosis with facial nerve palsy;Frontiers in Endocrinology;2023-10-11
5. Doctors' Perceptions of Rare Bone Disorders and X-Linked Hypophosphatemia: A Survey from Africa and the Middle East;Journal of Diabetes and Endocrine Practice;2022-04
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3