Best practice guidelines for molecular analysis in spinal muscular atrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5200667.pdf
Reference50 articles.
1. Emery AE . The nosology of spinal muscular atrophies J Med Genet 1971 8: 481–495
2. Dubowitz V . Muscle disorders in childhood Philadelphia, Saunders Co 1978
3. Thieme A, Mitulla B, Schulze F, Spiegler AW . Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen) Hum Genet 1993 91: 295–297
4. Thieme A, Mitulla B, Schulze F, Spiegler AW . Chronic childhood spinal muscular atrophy in Germany (West-Thuringen)–an epidemiological study Hum Genet 1994 93: 344–346
5. Pearn J . Classification of spinal muscular atrophies Lancet 1980 i: 919–922
Cited by 59 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. The promise of carrier screening: noninvasive prenatal diagnoses without proband for spinal muscular atrophy in early gestation age;2024-03-27
2. NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy;Biochemical Genetics;2024-02-22
3. Current Advances in Genetic Testing for Spinal Muscular Atrophy;Current Genomics;2023-09
4. Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows;Genes;2022-09-15
5. Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran;2022-09-07
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