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Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|September 17, 2014
[Rare combination of dystrophinopathy and Klinefelter's syndrome in one patient]Manting Xu, Fang Fang, Jing Xu
Stem Cell Research|December 25, 2021
Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutationManting Xu, Xin Duan, Xiaotun Ren, et al.
Frontiers in Genetics|May 31, 2021
Identification of a Novel Variant in MT-CO3 Causing MELASManting Xu, Robert Kopajtich, Matthias Elstner, et al.
Frontiers in Pharmacology|March 25, 2021
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like SyndromeJunling Wang, Zhimei Liu, Manting Xu, et al.
Mitochondrion|October 17, 2021
Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndromeManting Xu, Robert Kopajtich, Matthias Elstner, et al.
Frontiers in Pharmacology|January 11, 2020
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 MutationHua Li, Fang Fang, Manting Xu, et al.
Frontiers in Pharmacology|June 28, 2021
Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like SyndromeJunling Wang, Zhimei Liu, Manting Xu, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 3, 2024
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in ChildrenXiaodi Han, Hua Li, Jie Deng, et al.
Frontiers in Genetics|July 29, 2021
Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese PatientRui Ban, Zhimei Liu, Masaru Shimura, et al.
Frontiers in Pharmacology|October 25, 2021
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome GenotypesHua Li, Wei Wang, Xiaodi Han, et al.
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