1,041 results on '"Yoo, Han-Wook"'
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2. Clinical and genetic analyses of patients with lateralized overgrowth
3. Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
4. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency
5. A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
6. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
7. Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review
8. Clinical and molecular spectra of BRAF-associated RASopathy
9. Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents
10. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
11. Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease
12. Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
13. Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial
14. Trajectories in glycated hemoglobin and body mass index in children and adolescents with diabetes using the common data model
15. A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome
16. Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
17. Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
18. Identification of extremely rare mitochondrial disorders by whole exome sequencing
19. THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development
20. 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
21. Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
22. Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants
23. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
24. The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
25. Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents
26. Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
27. Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro
28. SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro
29. Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
30. Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.
31. Development of tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years
32. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea
33. Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors
34. Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism
35. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
36. Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial
37. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
38. Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs
39. Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
40. Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia
41. Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies
42. Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes
43. A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease
44. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing
45. A multicenter, open-label, phase III study of Abcertin in Gaucher disease
46. Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy
47. Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.
48. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
49. A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
50. Biochemical and molecular characteristics of citrin deficiency in Korean children
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