Genotype and phenotype spectrum of NRAS germline variants

Author:

Altmüller Franziska,Lissewski Christina,Bertola Debora,Flex Elisabetta,Stark Zornitza,Spranger Stephanie,Baynam Gareth,Buscarilli Michelle,Dyack Sarah,Gillis Jane,Yntema Helger G,Pantaleoni Francesca,van Loon Rosa LE,MacKay Sara,Mina Kym,Schanze Ina,Tan Tiong Yang,Walsh Maie,White Susan M,Niewisch Marena R,García-Miñaúr Sixto,Plaza Diego,Ahmadian Mohammad Reza,Cavé Hélène,Tartaglia Marco,Zenker Martin

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Cited by 37 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. Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene;Human Genomics;2023-02-20

2. Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-02-03

3. Engineering Small Molecule Switches of Protein Function in Zebrafish Embryos;Journal of the American Chemical Society;2023-01-20

4. Management of nutritional and gastrointestinal issues in RASopathies : A narrative review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12

5. Central nervous system involvement in individuals with RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12

同舟云学术

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