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A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

artículo científico publicado en 2020

Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus

scientific article published on 01 October 2019

Clinical Spectrum of Myelin Oligodendrocyte Glycoprotein-Immunoglobulin G-Associated Disease in Korean Children

scientific article published on 01 July 2020

Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

scientific article published on 01 January 2020

Coexistence of Radiation-Induced Meningioma and Moyamoya Syndrome 10 Years after Irradiation against Medulloblastoma: a Case Report

artículo científico publicado en 2017

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

artículo científico publicado en 2019

Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children

scientific article published on 01 October 2019

Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease

scientific article published on 27 May 2019

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

artículo científico publicado en 2018

Urological Problems in Patients with Menkes Disease

scientific article published on 26 December 2018

Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients

artículo científico publicado en 2022

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