Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

导出 LinkOut

翻译打印收藏纠错

作者： Pier Luigi,Carriero ^[1] ; Rosalia,Zangari ^[1] ; Eleonora,Sfreddo ^[1] ; Arianna,Ghirardi ^[1] ; Arrigo,Schieppati ^[2] ; Tiziano,Barbui ^[1] ; Francesco,Biroli ^[1]

作者单位： FROM Research Foundation ETS, Papa Giovanni XXIII Hospital, 24127 Bergamo, Italy. ^[1] Clinical Research Centre for Rare Diseases "Aldo and Cele Daccò", Mario Negri Institute for Pharmacological Research, 24020 Ranica, Italy. ^[2]

关键词 Angelman syndrome epilepsy genotype maternal 15q11–q13 region deletion patient registry patient-driven registry rare disease

DOI 10.3390/jcm13123520

PMID 38930051

发布时间 2024-06-29

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

Journal of clinical medicine

2024年13卷12期

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

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

Journal of clinical medicine

相似文献

Journal of clinical medicine

相关期刊

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

检索历史 清除

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

Journal of clinical medicine

相似文献

Journal of clinical medicine

相关期刊

检索历史清除