825 results on '"Chae, Jong‐Hee"'
Search Results
2. Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
3. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
4. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
5. Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
6. Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function
7. The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
8. Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice
9. De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
10. Severe Neurological Manifestation Associated With Coronavirus Disease 2019 in Children During the Omicron Variant-Predominant Period
11. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
12. Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
13. Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
14. A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population
15. Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea
16. Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans
17. The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
18. Fatal systemic disorder caused by biallelic variants in FARSA
19. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
20. Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy
21. TNNT1 myopathy with novel compound heterozygous mutations
22. Defining the phenotypic spectrum of SLC6A1 mutations
23. Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female
24. Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing
25. Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
26. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders
27. Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs
28. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
29. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
30. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
31. SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
32. Clinical outcomes of pediatric Anti-NMDA receptor encephalitis
33. Postoperative Symptomatic Cerebral Infarction in Pediatric Moyamoya Disease: Risk Factors and Clinical Outcome
34. Change of centrotemporal spikes from onset to remission in self-limited epilepsy with centrotemporal spikes (SLECTS)
35. Trajectory of change in the swallowing status in spinal muscular atrophy type I
36. Recurrent Fever of Unknown Origin and Unexplained Bacteremia in a Patient with a Novel 4.5 Mb Microdeletion in Xp11.23-p11.22
37. Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea
38. Expanding association between BICD2 variants and brain malformations
39. Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
40. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
41. A brain extraction algorithm for infant T2 weighted magnetic resonance images based on fuzzy c-means thresholding
42. Nanoelectrokinetic Selective Preconcentration Based on Ion Concentration Polarization
43. Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies
44. Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study.
45. Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy
46. Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein (SSBP1) to improve mitochondrial function
47. Spike persistence and normalization in benign epilepsy with centrotemporal spikes – Implications for management
48. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis
49. Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia
50. Satellite lesions of DNET: implications for seizure and tumor control after resection
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