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1 . Academic Journal
Novel heterozygous variant of ADPRHL2 causes pathogenic variation in CONDSIAS
저자
by
Shuang Yan
;
Jie Ren
;
Hongting Su
;
Jiehui Ma
;
Weijie He
, et al.
소스
Heliyon, Vol 10, Iss 14, Pp e32945- (2024)
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7 . Academic Journal
Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children
저자
by
Sheng Huang
;
Chunhui Hu
;
Min Zhong
;
Qinrui Li
;
Yuanyuan Dai
, et al.
소스
Epilepsy & Behavior Reports, Vol 26, Iss , Pp 100671- (2024)
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7 . Academic Journal
Possible Role of Mitochondrial Transfer RNA Gene 5816 A > G Genetic Polymorphism (m.5816A > G) in a 3-Year-Old Child with Dystonia: Report of a Case
저자
by
Sumei Wang
;
Minglu Liang
;
Jiehui Ma
;
Sheng Huang
;
Lili Fan
, et al.
소스
Global Medical Genetics, Vol 10, Iss 03, Pp 263-270 (2023)
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7 . Academic Journal
Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G
저자
by
Sumei Wang
;
Yejing Yu
;
Xu Wang
;
Xiaolong Deng
;
Jiehui Ma
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 15 (2022)
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7 . Academic Journal
Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report
저자
by
Jiehui Ma
;
Qiaoqiao Qian
;
Shuang Yan
;
Haoyu Dou
;
Cheng Li
, et al.
소스
Frontiers in Genetics, Vol 12 (2022)
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7 . Academic Journal
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants
저자
by
Ying Yang
;
Xueyang Niu
;
Miaomiao Cheng
;
Qi Zeng
;
Jie Deng
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 15 (2022)
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7 . Academic Journal
Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report
저자
by
Miaojuan Wu
;
Wenqi Gao
;
Zhifang Deng
;
Zhisheng Liu
;
Jiehui Ma
, et al.
소스
BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)
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7 . Academic Journal
Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2
저자
by
Jiehui Ma
;
Kun Ni
;
Wei Cai
;
Bingying li
;
Qiaoqiao Qian
, et al.
소스
Stem Cell Research, Vol 57, Iss , Pp 102589- (2021)
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7 . Academic Journal
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies
저자
by
Dan Sun
;
Yan Liu
;
Wei Cai
;
Jiehui Ma
;
Kun Ni
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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7 . Academic Journal
Children Infected With SARS-CoV-2 From Family Clusters
저자
by
Dan Sun
;
Feng Zhu
;
Cheng Wang
;
Jing Wu
;
Jie Liu
, et al.
소스
Frontiers in Pediatrics, Vol 8 (2020)
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