Publications by authors named "Beom Lee"

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Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations.
Soyoung Kim, Hyosang Do, Sun Hee Heo, Minji Kang, Soojin Hwang, Beom Hee Lee

MedComm (2020)· December 2025

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Delayed post-polypectomy perforation: A case report of a 65-year-old man at 54 days post-procedure.
Donghyoun Lee, Beom Jun Lee, Jung Woo Yi, Robert Kim, Yuchul Jeong

Medicine (Baltimore)· November 2025

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Regional Prevalence and Molecular Detection of in Coastal Shellfish from Korea.
Beom Hee Lee, Eul Bit Noh, Hee Jung Choi, Mun Gyeong Kwon, Bo Seong Kim

Animals (Basel)· November 2025

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Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Mi-Sun Yum, Min-Jee Kim, Beom Hee Lee

J Hum Genet· October 2025

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Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.
Jihye You, Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Mi-Sun Yum, Beom Hee Lee

J Child Neurol· August 2025

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Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.
Soojin Hwang, Go Hun Seo, In Hee Choi, Seung-Woo Ryue, Ji Young Oh, Soyoung Lee, Beom Hee Lee

Clin Transl Med· July 2025

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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.
Eungu Kang, Dohyung Kim, Soojin Hwang, Charlotte Lemech, Jessica Wharton, Yongyoon Lee, Beom Hee Lee

Mol Genet Genomic Med· June 2025

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The feasibility of a two-day intensive forest therapy incorporating mindfulness practices for natural disaster-affected individuals: a brief report.
Yongjun Lee, Yeji Yang, Ji-Eun Pyo, Beom Lee, ChangHyou Kim

Front Psychol· June 2025

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Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Dohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, Soojin Hwang, Go Hun Seo, Beom Hee Lee

J Hum Genet· May 2025

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Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
Ja Hye Kim, Dohyung Kim, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee

Orphanet J Rare Dis· May 2025

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Cross-cultural validation of the genetic counseling outcome scale in Korea.
Sojin Yang, Yoon Jung Chang, Kyung Ok Kim, Beom Hee Lee, Sun-Young Kong

J Genet Couns· April 2025

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Therapeutic effects of lomerizine on vasculopathy in Fabry disease.
Jong Bin Choi, Hyo-Sang Do, Dong-Won Seol, Hee-Young Yang, Taek-Min Kim, Beom Hee Lee

Sci Rep· April 2025

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Balloon-assisted enteroscopy in the management of adult small-bowel intussusception: a comparative analysis of with and without double-balloon enteroscopy.
Won Shik Kim, Beom Jae Lee, Moon Kyung Joo, Seung Han Kim, Jong-Jae Park

Surg Endosc· March 2025

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Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.
Jeong-Min Kim, Soojin Hwang, Hye-Won Cho, Youngjun Kim, Dong Mun Shin, Eun Lee, Cheonghwa Lee, Beom Hee Lee

Respir Res· March 2025

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Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.
Jae Ho Lee, Hyun Young Lee, Ji Eun Park, Min-Ju Kim, Dae Wook Hwang, Joo Yong Lee, Beom Hee Lee

BMC Cancer· March 2025

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Development and verification of the Korean version of the genetic counseling self-efficacy scale.
Sunhee Tak, Beom Hee Lee, In Hee Choi

J Genet Couns· February 2025

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Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.
Ja Hye Kim, Yena Lee, Soojin Hwang, Dohyung Kim, Beom Hee Lee

Exp Clin Endocrinol Diabetes· February 2025

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Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma.
Hyery Kim, Hee Mang Yoon, Eun Key Kim, Young Shin Ra, Hyo-Won Kim, Sang Min Lee, Byung Joo Lee, Seung Won Lee, Beom Hee Lee

Neuro Oncol· December 2024

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Response to the letter by Wang et al.: Selumetinib for plexiform neurofibroma: Advances and ongoing challenges.
Beom Hee Lee, Hyery Kim, Hee Mang Yoon

Neuro Oncol· December 2024

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RETRACTED: Jeong et al. A Phase III Head-to-Head Study to Compare the Efficacy and Safety of Fexuprazan and Esomeprazole in Treating Patients with Erosive Esophagitis. 2024, , 3262.
Yuchul Jeong, Beom Jun Lee, Se-Hyeon Han

J Clin Med· October 2024

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Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Oc-Hee Kim, Jihyun Kim, Youngjun Kim, Soyoung Lee, Beom Hee Lee

BMC Med Genomics· September 2024

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Synthesis and evaluation of antibody-drug conjugates with high drug-to-antibody ratio using dimaleimide-DM1 as a linker- payload.
Joo-Hyun Jeon, Seo Woo Kim, Yoon-Jung Kim, Jang-Woo Park, Jee Eun Moon, Yong Beom Lee, Geon-Ho Lee

Bioorg Chem· August 2024

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Early gastric cancer of young patients treated by endoscopic submucosal dissection: focusing on the different characteristics and prognosis of elderly patients.
Won Shik Kim, Seung Han Kim, Moon Kyung Joo, Jong-Jae Park, Beom Jae Lee

Surg Endosc· August 2024

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Associations of Insulin Resistance and High-Sensitivity C-Reactive Protein with Metabolic Abnormalities in Korean Patients with Type 2 Diabetes Mellitus: A Preliminary Study.
Yuchul Jeong, Beom Jun Lee, Wonjai Hur, Minjoon Lee, Se-Hyeon Han

Metabolites· June 2024

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RETRACTED: A Phase III Head-to-Head Study to Compare the Efficacy and Safety of Fexuprazan and Esomeprazole in Treating Patients with Erosive Esophagitis.
Yuchul Jeong, Beom Jun Lee, Se-Hyeon Han

J Clin Med· May 2024

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