Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 445, doi. 10.3390/genes15040445
- By:
- Publication type:
- Article
Works by Han, Ji Yoon
Results: 39
1
2
Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations.
- Published in:
- Genes, 2023, v. 14, n. 6, p. 1219, doi. 10.3390/genes14061219
- By:
- Publication type:
- Article
3
Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1465, doi. 10.3390/genes13081465
- By:
- Publication type:
- Article
4
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.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
5
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.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1001, doi. 10.3390/genes12071001
- By:
- Publication type:
- Article
6
Letter to the Editor: Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 546
- By:
- Publication type:
- Article
7
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2017, v. 47, n. 6, p. 747
- By:
- Publication type:
- Article
8
Seasonal epidemiological and clinical characteristics of pediatric patients with human parainfluenza virus infection by serotype: a retrospective study.
- Published in:
- Virology Journal, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12985-022-01875-2
- By:
- Publication type:
- Article
9
Clinical Significance of Isolated Sphenoid Sinusitis Identified in Pediatric Patients Presenting with Headache.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 10, p. 1625, doi. 10.3390/medicina60101625
- By:
- Publication type:
- Article
10
Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.
- Published in:
- International Journal of Molecular Sciences, 2025, v. 26, n. 7, p. 2929, doi. 10.3390/ijms26072929
- By:
- Publication type:
- Article
11
Headaches in Pediatric Patients during the Past Decade: Comparative Analysis by Age Group from a Multicenter Study in Korea.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 10, p. 951, doi. 10.3390/brainsci14100951
- By:
- Publication type:
- Article
12
Comparative Efficacy of Levetiracetam for Epilepsy in School-Aged Children with Intellectual Disability and Normal Intelligence.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 11, p. 1452, doi. 10.3390/brainsci11111452
- By:
- Publication type:
- Article
13
Efficacy of levetiracetam for neonatal seizures in preterm infants.
- Published in:
- 2018
- By:
- Publication type:
- journal article
14
A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
15
Dexras1 links glucocorticoids to insulin-like growth factor-1 signaling in adipogenesis.
- Published in:
- Scientific Reports, 2016, p. 28648, doi. 10.1038/srep28648
- By:
- Publication type:
- Article
16
A mucin-responsive hybrid two-component system controls Bacteroides thetaiotaomicron colonization and gut homeostasis.
- Published in:
- Journal of Microbiology, 2022, v. 60, n. 2, p. 215, doi. 10.1007/s12275-022-1649-3
- By:
- Publication type:
- Article
17
Pathogenetic and etiologic considerations of febrile seizures.
- Published in:
- Clinical & Experimental Pediatrics, 2023, v. 66, n. 2, p. 46, doi. 10.3345/cep.2021.01039
- By:
- Publication type:
- Article
18
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.
- Published in:
- Clinical & Experimental Pediatrics, 2020, v. 63, n. 6, p. 195, doi. 10.3345/kjp.2019.00808
- By:
- Publication type:
- Article
19
Chercher l'issue, ou l'art de fabuler en boucle dans Le Roman de Remort. Un entretien avec Marion Lessard.
- Published in:
- Intermediality / Revue Intermédialités, 2024, n. 43, p. 1, doi. 10.7202/1111676ar
- By:
- Publication type:
- Article
20
Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.862
- By:
- Publication type:
- Article
21
Seizure duration may increase thyroid-stimulating hormone levels in children experiencing a seizure.
- Published in:
- Journal of International Medical Research, 2020, v. 48, n. 5, p. 1, doi. 10.1177/0300060519888401
- By:
- Publication type:
- Article
22
Characteristics of Epilepsy in Children with Cerebral Palsy: A Single Tertiary Center Study.
- Published in:
- Annals of Child Neurology, 2023, v. 31, n. 4, p. 257, doi. 10.26815/acn.2023.00220
- By:
- Publication type:
- Article
23
Clinical Characteristics and Effects of Steroid Therapy in Children with Acute Cerebellar Ataxia.
- Published in:
- Annals of Child Neurology, 2021, v. 29, n. 3, p. 109, doi. 10.26815/acn.2021.00010
- By:
- Publication type:
- Article
24
Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 3, p. 115, doi. 10.1111/ahg.12294
- By:
- Publication type:
- Article
25
Effectiveness of Chloral Hydrate on Brain MRI in Children with Developmental Delay/Intellectual Disability Comparing with Normal Intelligence: Single Tertiary Center Experience.
- Published in:
- Children, 2021, v. 8, n. 12, p. 1, doi. 10.3390/children8121097
- By:
- Publication type:
- Article
26
Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report.
- Published in:
- Children, 2021, v. 8, n. 4, p. 1, doi. 10.3390/children8040313
- By:
- Publication type:
- Article
27
Febrile Seizures and Respiratory Viruses Determined by Multiplex Polymerase Chain Reaction Test and Clinical Diagnosis.
- Published in:
- Children, 2020, v. 7, n. 11, p. 1, doi. 10.3390/children7110234
- By:
- Publication type:
- Article
28
Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4.
- Published in:
- Children, 2020, v. 7, n. 9, p. 1, doi. 10.3390/children7090144
- By:
- Publication type:
- Article
29
Seizures Related to Influenza in Pediatric Patients: A Comparison with Seizures Associated with Other Respiratory Viral Infections.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 14, p. 3088, doi. 10.3390/jcm10143088
- By:
- Publication type:
- Article
30
Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.
- Published in:
- Biomedicines, 2024, v. 12, n. 12, p. 2663, doi. 10.3390/biomedicines12122663
- By:
- Publication type:
- Article
31
Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 4, p. 770, doi. 10.3390/diagnostics13040770
- By:
- Publication type:
- Article
32
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.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 4, p. 722, doi. 10.3390/diagnostics11040722
- By:
- Publication type:
- Article
33
The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10327, doi. 10.3390/ijms251910327
- By:
- Publication type:
- Article
34
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 9823, doi. 10.3390/ijms25189823
- By:
- Publication type:
- Article
35
The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
36
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 253, doi. 10.3390/ijms25010253
- By:
- Publication type:
- Article
37
Acute COVID-19 in unvaccinated children without a history of previous infection during the delta and omicron periods.
- Published in:
- Postgraduate Medicine, 2023, v. 135, n. 7, p. 727, doi. 10.1080/00325481.2023.2247280
- By:
- Publication type:
- Article
38
Effects of Antiviral Therapy and Glucocorticoid Therapy on Fever Duration in Pediatric Patients with Influenza.
- Published in:
- Medicina (1010660X), 2021, v. 57, n. 12, p. 1385, doi. 10.3390/medicina57121385
- By:
- Publication type:
- Article
39
Primary headaches in children and adolescents - experiences at a single headache center in Korea.
- Published in:
- 2018
- By:
- Publication type:
- journal article