48 results on '"Choi, Yunha"'
Search Results
2. Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
3. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
4. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency
5. Clinical and molecular spectra of BRAF-associated RASopathy
6. Novel hematopoietic progenitor kinase 1 inhibitor KHK-6 enhances T-cell activation.
7. Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review
8. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
9. Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease
10. Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
11. THU205 A Case Of Infant With Familial-Male Limited Precocious Puberty (FMPP) Inherited From Father Due To An Activating Mutation Of The Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene
12. A 14-year-old male with rhabdomyolysis associated with psychogenic polydipsia and hyponatremia
13. Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents
14. The Influence of Metacognition, Major Satisfaction and Self-confidence in the Performance of Core Fundamental Nursing Skills on Clinical Competency in Final Year Nursing Students
15. Nonparametric cognitive diagnosis of profiles of English reading skills: Focusing on a High-school exam
16. Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism
17. A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy
18. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
19. Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
20. A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease
21. Clinical and genetic analyses and treatment outcomes of patients with lateralized overgrowth
22. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
23. Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease
24. Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency
25. Clinical and Genetic Analyses and Treatment Experiences of Patients with Lateralized Overgrowth
26. eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
27. Additional file 1 of Clinical and genetic analyses of patients with lateralized overgrowth
28. Discovery of harmalanium halides as anti‐ovarian cancer agents
29. Pyrazolo[3,4‐ d ]pyrimidine derivatives as irreversible Bruton's tyrosine kinase inhibitors
30. Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings
31. Genotype–phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfect
32. Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease
33. Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.
34. Effect of Simulation Education on Problem Solving Process, Learning Attitude, and Educational Satisfaction of Nursing Students
35. Whole-body MRI Evaluation in Neurofibromatosis type 1 Patients Younger than 3 Years Old and the Genetic Contribution to Disease Progression
36. Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in Korea
37. A Study on the Suprematist Characteristics of Zaha Hadid's Architecture
38. Clinical and Genetic Analyses and Treatment Outcomes of Patients with Lateralized Overgrowth
39. Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents
40. High prevalence of genetic alterations in infantile-onset cardiomyopathy
41. Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors
42. High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy
43. Rapidly Progressive Parkinsonism and Dementia with No Insomnia due to the PRNP D178N Mutation
44. Pyrazolo[3,4‐d]pyrimidine derivatives as irreversible Bruton's tyrosine kinase inhibitors.
45. Clinical and molecular spectra of BRAF-associated RASopathy
46. Etiologic spectrum and clinical characteristics of pediatric diabetes among 276 children and adolescents with diabetes in a single academic center
47. Discovery of harmalanium halides as anti‐ovariancancer agents
48. eP239 - High prevalence of genetic alterations in infantile-onset cardiomyopathy.
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