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Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

Stem cell research, 2022-03, Vol.59, p.102633-102633, Article 102633

2022

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Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.264-277

2022

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Identification of a Novel Variant in MT-CO3 Causing MELAS

Frontiers in genetics, 2021-05, Vol.12, p.638749-638749

2021

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Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Frontiers in pharmacology, 2021-03, Vol.12, p.605803-605803

2021

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"A fly appeared": sable, a classic Drosophila mutation, maps to Yippee, a gene affecting body color, wings, and bristles

G3 : genes - genomes - genetics, 2022-05, Vol.12 (5)

2022

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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation

Frontiers in pharmacology, 2019-12, Vol.10, p.1454-1454

2019

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Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

Frontiers in genetics, 2021-07, Vol.12, p.685035-685035

2021

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Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Frontiers in pharmacology, 2021-06, Vol.12, p.686933-686933

2021

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Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

Frontiers in pharmacology, 2021-10, Vol.12, p.669516-669516

2021

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Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome

Mitochondrion, 2022-01, Vol.62, p.13-23

2022

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Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children

Neurological sciences, 2024-06

2024

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Demonstration of in vivo engineered tandem duplications of varying sizes using CRISPR and recombinases in Drosophila melanogaster

G3 : genes - genomes - genetics, 2023-09, Vol.13 (10)

2023

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Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

Journal of medical genetics, 2022-04, Vol.59 (4), p.351

2022

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Progress in respiratory function assessment and management for Duchenne muscular dystrophy

Zhonghua er ke za zhi, 2014-11, Vol.52 (11), p.831

2014

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Arsenic and Human Health: New Molecular Mechanisms For Arsenic-Induced Cancers

Current pollution reports, 2023-12, Vol.9 (4), p.784-797

2023

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Rare combination of dystrophinopathy and Klinefelter's syndrome in one patient

Zhonghua er ke za zhi, 2014-07, Vol.52 (7), p.548

2014

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IL-7 and CCL19-secreting CAR-T cell therapy for tumors with positive glypican-3 or mesothelin

Journal of hematology and oncology, 2021-07, Vol.14 (1), p.1-118, Article 118

2021

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Remodelling of tumour microenvironment by microwave ablation potentiates immunotherapy of AXL-specific CAR T cells against non-small cell lung cancer

Nature communications, 2022-10, Vol.13 (1), p.6203-16, Article 6203

2022

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Long noncoding RNA ZFP36L2-AS functions as a metabolic modulator to regulate muscle development

Cell death & disease, 2022-04, Vol.13 (4), p.389-389, Article 389

2022

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On the coupling effect in the RF-biased inductively coupled plasma with the synchronous control

Physics of plasmas, 2024-02, Vol.31 (2)

2024

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Paris saponin Ⅰ induce toxicity in zebrafish by up-regulation of p53 pathway and down-regulation of wnt pathway

Toxicon (Oxford), 2023-06, Vol.228, p.107094-107094, Article 107094

2023

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Chitin degradation potential and whole-genome sequence of Streptomyces diastaticus strain CS1801

AMB Express, 2020-02, Vol.10 (1), p.29-29, Article 29

2020

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Aluminum dihydric tripolyphosphate/polypyrrole-functionalized graphene oxide waterborne epoxy composite coatings for impermeability and corrosion protection performance of metals

Advanced composites and hybrid materials, 2021-09, Vol.4 (3), p.780-792

2021

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Trace elements in aquatic products from Shenzhen, China and their implications for human exposure

The Science of the total environment, 2023-08, Vol.885, p.163726-163726, Article 163726

2023

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Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

Identification of a Novel Variant in MT-CO3 Causing MELAS

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

"A fly appeared": sable, a classic Drosophila mutation, maps to Yippee, a gene affecting body color, wings, and bristles

Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children

Demonstration of in vivo engineered tandem duplications of varying sizes using CRISPR and recombinases in Drosophila melanogaster

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

Progress in respiratory function assessment and management for Duchenne muscular dystrophy

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Arsenic and Human Health: New Molecular Mechanisms For Arsenic-Induced Cancers

Rare combination of dystrophinopathy and Klinefelter's syndrome in one patient

IL-7 and CCL19-secreting CAR-T cell therapy for tumors with positive glypican-3 or mesothelin

Remodelling of tumour microenvironment by microwave ablation potentiates immunotherapy of AXL-specific CAR T cells against non-small cell lung cancer

Long noncoding RNA ZFP36L2-AS functions as a metabolic modulator to regulate muscle development

On the coupling effect in the RF-biased inductively coupled plasma with the synchronous control

Paris saponin Ⅰ induce toxicity in zebrafish by up-regulation of p53 pathway and down-regulation of wnt pathway

Chitin degradation potential and whole-genome sequence of Streptomyces diastaticus strain CS1801

Aluminum dihydric tripolyphosphate/polypyrrole-functionalized graphene oxide waterborne epoxy composite coatings for impermeability and corrosion protection performance of metals

Trace elements in aquatic products from Shenzhen, China and their implications for human exposure

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