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Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|January 14, 2016
[Diagnosis of mitochondrial disorders in children with next generation sequencing]Zhimei Liu, Fang Fang, Changhong Ding, et al.Mitochondrion|June 21, 2025
Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosisRuoyu Duan, Refiloe Laurentinah Mahlatsi, Ya Wang, et al.CNS Neuroscience & Therapeutics|June 19, 2026
Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C MutationZimeng He, Huafang Jiang, Tongyue Li, et al.Annals of Clinical and Translational Neurology|February 6, 2025
Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disordersZhimei Liu, Kexin Pan, Mingzhao Wang, et al.Gene|January 30, 2023
De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndromeXiaoting Lou, Yuwei Zhou, Zhimei Liu, et al.Journal of Medical Genetics|April 3, 2021
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathyZhimei Liu, Li Zhang, Changhong Ren, et al.Molecular Genetics and Genomics : MGG|October 26, 2024
A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndromeZhimei Liu, Yaojun Xie, Xiaoting Lou, et al.Journal of Inherited Metabolic Disease|December 7, 2021
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiencyHuafang Jiang, Ahmad Alahmad, Song Fu, et al.Annals of Neurology|January 30, 2022
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's HospitalSarah L Stenton, Ying Zou, Hua Cheng, et al.Annals of Clinical and Translational Neurology|April 25, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial DiseaseZhimei Liu, Xin Duan, Fatemeh Peymani, et al.Pageof 14