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The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

Human mutation, 2015-06, Vol.36 (6), p.573-580

2015

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Distinct placental molecular processes associated with early-onset and late-onset preeclampsia

Theranostics, 2021-01, Vol.11 (10), p.5028-5044

2021

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Ion Channel Genes and Epilepsy：Functional Alteration,Pathogenic Potential,and Mechanism of Epilepsy

Neuroscience bulletin, 2017-08, Vol.33 (4), p.455-477

2017

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Correlation of MKI67 with prognosis, immune infiltration, and T cell exhaustion in hepatocellular carcinoma

BMC gastroenterology, 2021-11, Vol.21 (1), p.1-416, Article 416

2021

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Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti‐seizure medications

Epilepsia (Copenhagen), 2022-04, Vol.63 (4), p.936-949

2022

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CAR-T Cells in the Treatment of Ovarian Cancer: A Promising Cell Therapy

Biomolecules (Basel, Switzerland), 2023-03, Vol.13 (3), p.465

2023

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Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies

Genetics in medicine, 2019-01, Vol.21 (1), p.17-27

2019

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Heterovalent-Doping-Enabled Efficient Dopant Luminescence and Controllable Electronic Impurity Via a New Strategy of Preparing II−VI Nanocrystals

Advanced materials (Weinheim), 2015-05, Vol.27 (17), p.2753-2761

2015

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Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

Molecular brain, 2020-05, Vol.13 (1), p.76-76, Article 76

2020

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CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures

CNS neuroscience & therapeutics, 2022-03, Vol.28 (3), p.382-389

2022

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The correlation of EZH2 expression with the progression and prognosis of hepatocellular carcinoma

BMC immunology, 2022-06, Vol.23 (1), p.28-28, Article 28

2022

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ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation

Neurogenetics, 2018-01, Vol.19 (1), p.9-16

2018

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CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia

CNS neuroscience & therapeutics, 2021-10, Vol.27 (10), p.1146-1156

2021

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RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia

Frontiers in neuroscience, 2021-04, Vol.15, p.629610-629610

2021

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Association of HLA-B1502 allele with lamotrigine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese subjects: a meta-analysis

International journal of dermatology, 2015-04, Vol.54 (4), p.488-493

2015

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Leukaemic Presentation of Small-Cell Alk-Positive Anaplastic Large Cell Lymphoma in a Young Woman—Report of a Case with 9-Year Survival

Medicina (Kaunas, Lithuania), 2023-09, Vol.59 (9), p.1628

2023

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Association between HLA and Stevens-Johnson Syndrome Induced by Carbamazepine in Southern Han Chinese: Genetic Markers besides B1502?

Basic & clinical pharmacology & toxicology, 2012-07, Vol.111 (1), p.58-64

2012

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De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects

Frontiers in molecular neuroscience, 2024-01, Vol.16, p.1321090-1321090

2024

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GRIN2A Variants Associated With Idiopathic Generalized Epilepsies

Frontiers in molecular neuroscience, 2021-10, Vol.14, p.720984-720984

2021

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Epilepsy-associated genes

Seizure (London, England), 2017-01, Vol.44, p.11-20

2017

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Efficient Two-Photon-Sensitized Luminescence of a Europium(III) Complex

Angewandte Chemie (International ed.), 2005-01, Vol.44 (5), p.747-750

2005

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Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation

Frontiers in aging neuroscience, 2022-04, Vol.14, p.848919-848919

2022

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CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

Frontiers in molecular neuroscience, 2022-05, Vol.15, p.860662-860662

2022

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HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

Clinical and translational medicine, 2023-06, Vol.13 (6), p.e1289-n/a

2023

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Role of Ligand-to-Metal Charge Transfer State in Nontriplet Photosensitization of Luminescent Europium Complex

The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory, 2010-04, Vol.114 (13), p.4494-4500

2010

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The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

Distinct placental molecular processes associated with early-onset and late-onset preeclampsia

Ion Channel Genes and Epilepsy：Functional Alteration,Pathogenic Potential,and Mechanism of Epilepsy

Correlation of MKI67 with prognosis, immune infiltration, and T cell exhaustion in hepatocellular carcinoma

Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti‐seizure medications

CAR-T Cells in the Treatment of Ovarian Cancer: A Promising Cell Therapy

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies

Heterovalent-Doping-Enabled Efficient Dopant Luminescence and Controllable Electronic Impurity Via a New Strategy of Preparing II−VI Nanocrystals

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures

The correlation of EZH2 expression with the progression and prognosis of hepatocellular carcinoma

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia

RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia

Association of HLA-B1502 allele with lamotrigine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese subjects: a meta-analysis

Leukaemic Presentation of Small-Cell Alk-Positive Anaplastic Large Cell Lymphoma in a Young Woman—Report of a Case with 9-Year Survival

Association between HLA and Stevens-Johnson Syndrome Induced by Carbamazepine in Southern Han Chinese: Genetic Markers besides B1502?

De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies

Epilepsy-associated genes

Efficient Two-Photon-Sensitized Luminescence of a Europium(III) Complex

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

Role of Ligand-to-Metal Charge Transfer State in Nontriplet Photosensitization of Luminescent Europium Complex

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