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Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

Clinical genetics, 2020-04, Vol.97 (4), p.586-594

2020

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Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing

Clinical genetics, 2021-03, Vol.99 (3), p.418-424

2021

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A brain extraction algorithm for infant T2 weighted magnetic resonance images based on fuzzy c-means thresholding

Scientific reports, 2021-12, Vol.11 (1), p.23347-23347, Article 23347

2021

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Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy

Epilepsia (Copenhagen), 2024-01, Vol.65 (1), p.190-203

2024

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Impact of nusinersen on the health‐related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months

Muscle & nerve, 2023-10, Vol.68 (4), p.404-413

2023

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Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Annals of neurology, 2021-11, Vol.90 (5), p.738-750

2021

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SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63606-n/a

2024

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Clinico‐radiological characteristics of anti‐myelin oligodendrocyte glycoprotein antibody‐associated autoimmune encephalitis in children

Developmental medicine and child neurology, 2022-08, Vol.64 (8), p.998-1007

2022

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Pediatric brain extraction from T2‐weighted MR images using 3D dual frame U‐net and human connectome database

International journal of imaging systems and technology, 2019-12, Vol.29 (4), p.476-482

2019

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Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions

Journal of neurology, neurosurgery and psychiatry, 2021-11, Vol.92 (11), p.1244-1246

2021

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Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

Journal of allergy and clinical immunology, 2017-04, Vol.139 (4), p.1396-1399.e12

2017

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Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

Scientific reports, 2017-06, Vol.7 (1), p.4287-9, Article 4287

2017

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A case of pediatric anti-leucine-rich glioma inactivated 1 encephalitis with faciobrachial dystonic seizure

Brain & development (Tokyo. 1979), 2023-06, Vol.45 (6), p.348-353

2023

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Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

Journal of medical genetics, 2022-11, Vol.59 (11), p.1075-1081

2022

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ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

Scientific reports, 2017-11, Vol.7 (1), p.16504-11, Article 16504

2017

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GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2200-2205

2016

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Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

Experimental dermatology, 2021-05, Vol.30 (5), p.676-683

2021

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Dynamics of driftless preconcentration using ion concentration polarization leveraged by convection and diffusion

Lab on a chip, 2019-10, Vol.19 (19), p.319-3199

2019

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Trajectory of change in the swallowing status in spinal muscular atrophy type I

International journal of pediatric otorhinolaryngology, 2020-03, Vol.130, p.109818-109818, Article 109818

2020

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Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance

Muscle & nerve, 2019-12, Vol.60 (6), p.668-672

2019

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Fatal systemic disorder caused by biallelic variants in FARSA

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-306, Article 306

2022

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Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

Orphanet journal of rare diseases, 2020-12, Vol.15 (1), p.343-343, Article 343

2020

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Collagen VI‐related myopathy: Expanding the clinical and genetic spectrum

Muscle & nerve, 2018-09, Vol.58 (3), p.381-388

2018

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A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy

Brain & development (Tokyo. 1979), 2021-03, Vol.43 (3), p.454-458

2021

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Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing

A brain extraction algorithm for infant T2 weighted magnetic resonance images based on fuzzy c-means thresholding

Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy

Impact of nusinersen on the health‐related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights

Clinico‐radiological characteristics of anti‐myelin oligodendrocyte glycoprotein antibody‐associated autoimmune encephalitis in children

Pediatric brain extraction from T2‐weighted MR images using 3D dual frame U‐net and human connectome database

Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

A case of pediatric anti-leucine-rich glioma inactivated 1 encephalitis with faciobrachial dystonic seizure

Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

Dynamics of driftless preconcentration using ion concentration polarization leveraged by convection and diffusion

Trajectory of change in the swallowing status in spinal muscular atrophy type I

Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance

Fatal systemic disorder caused by biallelic variants in FARSA

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

Collagen VI‐related myopathy: Expanding the clinical and genetic spectrum

A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy

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