Clinical, radiological, and genetic characterization of <i>SLC13A5</i> variants in Saudi families: Genotype phenotype correlation and brief review of the literature.

导出 LinkOut

翻译打印收藏纠错

作者： Hanan,AlQudairy ^[1] ; Hesham,AlDhalaan ^[2] ; Sarah,AlRuways ^[1] ; Nouf,AlMutairi ^[3] ; Maha,AlNakiyah ^[1] ; Reema,AlGhofaili ^[3] ; Albandary,AlBakheet ^[1] ; Adeeb,Alomrani ^[3] ; Omar A,Alharbi ^[1] ; Ehab,Tous ^[3] ; Moeen,AlSayed ^[2] ; Hamad,AlZaidan ^[4] ; Maha M,AlRasheed ^[2] ; Ali,AlOdaib ^[2] ; Namik,Kaya ^[5]

作者单位： Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia. ^[1] Department of Neurosciences, KFSHRC, Riyadh, Saudi Arabia. ^[2] College of Pharmacy, King Saud University (KSU), Riyadh, Saudi Arabia. ^[3] Dentistry Department, KFSHRC, Riyadh, Saudi Arabia. ^[4] Department of Medical Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia. ^[5] Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia. ^[6] Training and Education Department, Research Centre, KFSHRC, Riyadh, Saudi Arabia. ^[7]

关键词 SLC13A Sanger sequencing epileptic encephalopathy intellectual disability novel variant tooth abnormalities whole exome sequencing (WES)

DOI 10.3389/fped.2022.1051534

PMID 36923948

发布时间 2023-03-16

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

Frontiers in pediatrics

2022年10卷

1051534页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

Clinical, radiological, and genetic characterization of <i>SLC13A5</i> variants in Saudi families: Genotype phenotype correlation and brief review of the literature.

Frontiers in pediatrics

相似文献

Frontiers in pediatrics

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Clinical, radiological, and genetic characterization of <i>SLC13A5</i> variants in Saudi families: Genotype phenotype correlation and brief review of the literature.

Frontiers in pediatrics

相似文献

Frontiers in pediatrics

相关期刊

检索历史清除