Beom Hee Lee
Seoul National University
H-index: 41
Asia-South Korea
Top articles of Beom Hee Lee
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
Molecular Genetics & Genomic Medicine
2024/4
Yoon Hae Kwak
H-Index: 10
Young Seok Ju
H-Index: 28
Minji Kang
H-Index: 12
Soyoung Kim
H-Index: 21
Beom Hee Lee
H-Index: 22
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
American journal of hematology
2024/4/1
Genetic heterogeneity of cardiomyopathy and its correlation with patient care
BMC Medical Genomics
2023/10/30
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
Clinical Genetics
2023/9
Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome
BMB reports
2023/8/8
Jae Eun Kim
H-Index: 11
Beom Hee Lee
H-Index: 22
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
2023/4
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing
Molecular Therapy-Nucleic Acids
2023/3/14
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
JIMD reports
2023/1
Beom Hee Lee
H-Index: 22
A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease
Medicine
2022/9/16
Beom Hee Lee
H-Index: 22
Jin-Ho Choi
H-Index: 37
Evaluation of users’ level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases
Medicine
2022/7/15
Clinical and genetic analyses and treatment outcomes of patients with lateralized overgrowth
2022/6/21
Phenotypic and genetic complexity in pediatric movement disorders
Frontiers in Genetics
2022/6/1
Beom Hee Lee
H-Index: 22
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease
Clinical and Translational Medicine
2022/5
Taeho Kim
H-Index: 4
Yena Lee
H-Index: 30
Jeongmin Choi
H-Index: 9
Kyunggon Kim
H-Index: 13
Beom Hee Lee
H-Index: 22
Clinical and Genetic Analyses and Treatment Experiences of Patients with Lateralized Overgrowth
2022/3/17
Efficacy and safety of selumetinib in pediatric patients with neurofibromatosis type 1: a systematic review and meta-analysis
2022/3/1
Beom Hee Lee
H-Index: 22
Kyung Won Kim
H-Index: 9
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta
Annals of Pediatric Endocrinology & Metabolism
2022/3
Beom Hee Lee
H-Index: 22
Jin-Ho Choi
H-Index: 37
eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
Genetics in Medicine
2022/3/1
Clinical and genetic features of four patients with Pearson syndrome: An observational study
Medicine
2022/2/4
Jae-Sung Bae
H-Index: 24
Beom Hee Lee
H-Index: 22
Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency
Clinica Chimica Acta
2022/2/1
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
Orphanet Journal of Rare Diseases
2022/1/29
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