Soojin Hwang
Seoul, Republic of Korea
Last Updated: 09/26/2026
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Found 44 publications
Therapeutic effects of selumetinib on diffuse neurofibroma and optic pathway glioma in neurofibromatosis type 1.
Journal: Journal of neuro-oncology
Published: March 29, 2026
Long-term safety and efficacy of triheptanoin in Korean patients with long-chain fatty acid oxidation disorders: a prospective, open-label, single-center, phase II clinical study.
Journal: BMC medical genomics
Published: January 05, 2026
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
Journal: The Journal of molecular diagnostics : JMD
Published: August 13, 2025
Endocrine complications after solid organ transplantation in childhood and adolescents.
Journal: Frontiers in endocrinology
Published: July 03, 2025
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Journal: Journal of human genetics
Published: June 14, 2025
Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.
Journal: Respiratory research
Published: January 13, 2025
Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
Journal: Orphanet journal of rare diseases
Published: January 03, 2025
Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.
Journal: Clinical and translational medicine
Published: December 17, 2024
A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration.
Journal: Molecular genetics & genomic medicine
Published: December 11, 2024
Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: October 17, 2024
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Journal: Journal of human genetics
Published: September 05, 2024
Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations.
Journal: MedComm
Published: August 02, 2024
Last Updated: 09/26/2026