Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.

Wagner LA; Mazarei G

首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.

【24h】

Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.

机译：Freeman-Sheldon综合征和Sheldon-Hall综合征：收缩新基因型。

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome Toydemir et al. (2006) Nature Genetics 38: 561-565.

机译：胚胎肌球蛋白重链（MYH3）中的突变引起Freeman-Sheldon综合征和Sheldon-Hall综合征Toydemir等。（2006）Nature Genetics 38：561-565。

著录项

来源
《Clinical Genetics: An International Journal of Genetics in Medicine》 |2006年第3期|共2页
作者
Wagner LA; Mazarei G;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
Freeman-Sheldon syndrome; Syndrome; Nature; Myosins; Mutation; 综合征; 自然; 突变;

机译：Freeman-Sheldon syndrome;Syndrome;Nature;Myosins;Mutation;综合征;自然;突变;

相似文献

外文文献
中文文献
专利

1. Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes. [J] . Wagner LA, Mazarei G Clinical Genetics: An International Journal of Genetics in Medicine . 2006,第3期

机译：Freeman-Sheldon综合征和Sheldon-Hall综合征：收缩新基因型。
2. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome [J] . Toydemir RM, Rutherford A, Whitby FG, Nature Genetics . 2006,第5期

机译：胚胎肌球蛋白重链（MYH3）突变导致Freeman-Sheldon综合征和Sheldon-Hall综合征
3. A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B) [J] . Xu Yang, Kang Qing-Lin, Zhang Zhen-Lin Neuromuscular disorders: NMD . 2018,第5期

机译：用Sheldon-Hall综合征（DA2B）第一次在中国家庭中鉴定的MYH3突变
4. A Fuzzy Model of Diagnosis of Eight Syndromes and Internal Organs' Syndromes in Traditional Vietnamese Medicine [C] . Nguyen Hoang Phuong International Conference on Frontiers of Intelligent Computing : Theory and Applications . 2020

机译：传统越南医学诊断八综合征诊断模糊模型及内部器官综合征
5. Pediatric Germline Predispositions to Myelodisplastic Syndrome, Expert Guidance for the Initial Evaluation and Management of SAMD9 and SAMD9L Variants, and the Importance of Database Development for These Rare Syndromes [D] . Nelson, Catherine. 2021

机译：小儿种芽髓倾向于骨髓性综合征，初步评估和管理的专家指导和SAMD9和SAMD9L变体的重要性，以及数据库开发对这些罕见综合征的重要性
6. Findings phenotypes and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis [O] . Mikaela I. Poling, José Andrés Morales Corado, Robert L. Chamberlain 2017

机译：Freeman-Sheldon和Sheldon-Hall综合征以及1型和3型远端关节置换术的发现表型和结局用于系统评价和患者水平数据荟萃分析的方案
7. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis [O] . Mikaela I. Poling, José Andrés Morales Corado, Robert L. Chamberlain 2017

机译：Freeman-Sheldon和Sheldon-Hall综合征以及1型和3型远端关节置换术的发现，表型和结局，用于系统评价和患者水平数据荟萃分析的方案

Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.

摘要

著录项

相似文献

相关主题

期刊订阅