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A mucin-responsive hybrid two-component system controls Bacteroides thetaiotaomicron colonization and gut homeostasis

The Journal of Microbiology, 2022, 60(2), , pp.215-223

2022

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Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Genes, 2024-03, Vol.15 (4), p.445

2024

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Seasonal epidemiological and clinical characteristics of pediatric patients with human parainfluenza virus infection by serotype: a retrospective study

Virology journal, 2022-09, Vol.19 (1), p.1-141, Article 141

2022

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Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

Heliyon, 2024-04, Vol.10 (7), p.e28684, Article e28684

2024

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The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

International journal of molecular sciences, 2024-04, Vol.25 (7), p.3701

2024

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A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy

Clinica chimica acta, 2022-08, Vol.533, p.15-21

2022

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Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome

International journal of molecular sciences, 2023-12, Vol.25 (1), p.253

2023

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Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Genes, 2022-08, Vol.13 (8), p.1465

2022

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Febrile Seizures and Respiratory Viruses Determined by Multiplex Polymerase Chain Reaction Test and Clinical Diagnosis

Children (Basel), 2020-11, Vol.7 (11), p.234

2020

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Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

Genes, 2021-06, Vol.12 (7), p.1001

2021

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A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

Genes, 2021-09, Vol.12 (9), p.1388

2021

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Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience

Annals of human genetics, 2019-05, Vol.83 (3), p.115-123

2019

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Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Diagnostics (Basel), 2021-04, Vol.11 (4), p.722

2021

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Seizure duration may increase thyroid-stimulating hormone levels in children experiencing a seizure

Journal of international medical research, 2020-05, Vol.48 (5), p.300060519888401-300060519888401

2020

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Seizures Related to Influenza in Pediatric Patients: A Comparison with Seizures Associated with Other Respiratory Viral Infections

Journal of clinical medicine, 2021-07, Vol.10 (14), p.3088

2021

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Efficacy of levetiracetam for neonatal seizures in preterm infants

BMC pediatrics, 2018-04, Vol.18 (1), p.131-131, Article 131

2018

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SCARA5 plays a critical role in the commitment of mesenchymal stem cells to adipogenesis

Scientific reports, 2017-11, Vol.7 (1), p.14833-13, Article 14833

2017

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Primary headaches in children and adolescents - experiences at a single headache center in Korea

BMC neurology, 2018-05, Vol.18 (1), p.70-70, Article 70

2018

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Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations

Genes, 2023-06, Vol.14 (6), p.1219

2023

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Effectiveness of Chloral Hydrate on Brain MRI in Children with Developmental Delay/Intellectual Disability Comparing with Normal Intelligence: Single Tertiary Center Experience

Children (Basel), 2021-11, Vol.8 (12), p.1097

2021

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Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination

Diagnostics (Basel), 2023-02, Vol.13 (4), p.770

2023

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Effects of Antiviral Therapy and Glucocorticoid Therapy on Fever Duration in Pediatric Patients with Influenza

Medicina (Kaunas, Lithuania), 2021-12, Vol.57 (12), p.1385

2021

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Comparative Efficacy of Levetiracetam for Epilepsy in School-Aged Children with Intellectual Disability and Normal Intelligence

Brain sciences, 2021-10, Vol.11 (11), p.1452

2021

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Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

Frontiers in pediatrics, 2018-12, Vol.6, p.391-391

2018

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Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e862-n/a

2019

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A mucin-responsive hybrid two-component system controls Bacteroides thetaiotaomicron colonization and gut homeostasis

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Seasonal epidemiological and clinical characteristics of pediatric patients with human parainfluenza virus infection by serotype: a retrospective study

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Febrile Seizures and Respiratory Viruses Determined by Multiplex Polymerase Chain Reaction Test and Clinical Diagnosis

Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience

Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Seizure duration may increase thyroid-stimulating hormone levels in children experiencing a seizure

Seizures Related to Influenza in Pediatric Patients: A Comparison with Seizures Associated with Other Respiratory Viral Infections

Efficacy of levetiracetam for neonatal seizures in preterm infants

SCARA5 plays a critical role in the commitment of mesenchymal stem cells to adipogenesis

Primary headaches in children and adolescents - experiences at a single headache center in Korea

Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations

Effectiveness of Chloral Hydrate on Brain MRI in Children with Developmental Delay/Intellectual Disability Comparing with Normal Intelligence: Single Tertiary Center Experience

Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination

Effects of Antiviral Therapy and Glucocorticoid Therapy on Fever Duration in Pediatric Patients with Influenza

Comparative Efficacy of Levetiracetam for Epilepsy in School-Aged Children with Intellectual Disability and Normal Intelligence

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

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