262 results on '"Cheon, Chong-Kun"'
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2. A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish
3. NANS‐CDG: Expanding clinical insights with a novel patient with novel variants.
4. The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
5. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
6. Clinical and molecular spectra of BRAF-associated RASopathy
7. Evaluation of users’ level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases
8. The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome
9. Healthcare coaching program for youth with type 1 diabetes in South Korea: a pilot study
10. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
11. Commentary on "Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak"
12. The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
13. A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
14. Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing
15. Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease
16. A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: case report with a review of literatures
17. Additional file 1 of A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish
18. Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease
19. Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
20. Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability
21. Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease
22. Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies
23. A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease
24. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing
25. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency
26. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients
27. From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene
28. The Korean Undiagnosed Diseases Program Phase I: Expansion of the Nationwide Network and the Development of Long-term Infrastructures
29. Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease
30. Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency
31. eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
32. The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in Korea
33. Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes
34. Commentary on "Effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys with idiopathic central precocious puberty"
35. Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism
36. Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population
37. The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis
38. Additional file 1 of Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
39. Practical approach to steroid 5alpha-reductase type 2 deficiency
40. A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene
41. Growth Outcome and Metabolic Profile of PWS Patients Treated With GH and Differences Between AGA and SGA Group
42. Identification of a Novel DICER1 Germline Mutation in Thyroid Follicular Adenoma Using Whole Exome Sequencing
43. Genotype and clinical outcomes in children with congenital adrenal hyperplasia
44. Additional file 3 of The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
45. Additional file 1 of The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
46. Additional file 2 of The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
47. Understanding of type 1 diabetes mellitus: what we know and where we go
48. First experience of switching from enzyme replacement therapy to oral chaperone migalastat for treating Fabry disease in Korea
49. The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation
50. Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review
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