The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome!
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Molar tooth sign is not pathognomonic for Joubert syndrome;Dirik;Pediatr Neurol,2013
2. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation;Joubert;Neurology,1969
3. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes;Gleeson;Am J Med Genet A,2004
4. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients;Poretti;AJNR Am J Neuroradiol,2011
5. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol,2013
Cited by 35 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. Novel variants identified in five Chinese families with Joubert Syndrome: a case report;BMC Medical Genomics;2023-09-21
2. New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations;The Cerebellum;2023-06-23
3. A novel non-sense variant in the OFD1 gene caused Joubert syndrome;Frontiers in Genetics;2023-01-10
4. Joubert-Syndrom und verwandte Erkrankungen;Diagnostic Imaging: Pädiatrische Neuroradiologie;2023
5. Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis;Molecular Genetics & Genomic Medicine;2022-12-20
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