C12orf57致病变异:印度南部儿童发育性脑病的独特原因

F. Alfiya, M. Jose, S. Chandrasekharan, Soumya Sundaram, Madhusoodanan Urulangodi, B. Thomas, A. Radhakrishnan, M. Banerjee, R. Menon
{"title":"C12orf57致病变异:印度南部儿童发育性脑病的独特原因","authors":"F. Alfiya, M. Jose, S. Chandrasekharan, Soumya Sundaram, Madhusoodanan Urulangodi, B. Thomas, A. Radhakrishnan, M. Banerjee, R. Menon","doi":"10.1007/s12041-022-01371-0","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"63 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child\",\"authors\":\"F. Alfiya, M. Jose, S. Chandrasekharan, Soumya Sundaram, Madhusoodanan Urulangodi, B. Thomas, A. Radhakrishnan, M. Banerjee, R. Menon\",\"doi\":\"10.1007/s12041-022-01371-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":49279,\"journal\":{\"name\":\"the Korean Journal of Genetics\",\"volume\":\"63 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-06-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"the Korean Journal of Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12041-022-01371-0\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"the Korean Journal of Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12041-022-01371-0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review Indigenous population genome databases for India and South Asia: emerging need for health and social applications Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies Population genetic analysis and scans for adaptation and contemporary selection footprints provide genomic insight into aus, indica and japonica rice cultivars diversification In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1