Concepedia

Jingli Shan

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Statistics

Publications

8

Citations

395

H-Index

8

Active since

2013

Affiliations

Qilu Hospital of Shandong University(Current)

Peking University First Hospital

Shandong University

Peking University

Fudan University

Jingli Shan is an author at Qilu Hospital of Shandong University specializing in genetics, life sciences, and molecular genetics.

Publications per year

2013–2023

8

Publications

8

The GGC repeat expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy type 3

Jianwen Deng, Xueyu Guo, Jingli Shan et al. · Brain · 2021 · 137 citations · Full text

, , +15

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

Jiaxi Yu, Jingli Shan, Meng Yu et al. · The American Journal of Human Genetics · 2022 · 82 citations · Full text

, , +8

Congenital muscular dystrophies in China

Ge Lin, Cheng Zhang, Zhaoxia Wang et al. · Clinical Genetics · 2019 · 52 citations

, , +13

<scp><i>ETFDH</i></scp> Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme <scp>A</scp> Dehydrogenation Deficiency

Jingwen Xu, Duoling Li, Jingwei Lv et al. · Annals of Neurology · 2018 · 47 citations

, , +17

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation

Bing Wen, Duoling Li, Jingli Shan et al. · Molecular Genetics and Metabolism · 2013 · 30 citations

, , +16

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