Beom Hee Lee
Seoul National University
H-index: 41
Asia-South Korea
Top articles of Beom Hee Lee
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
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 | Jun Hee Cho Soojin Hwang Yoon Hae Kwak Mi‐Sun Yum Go Hun Seo | 2024/4 |
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease | American journal of hematology | Soojin Hwang Hyunwoo Bae Ji-Hee Yoon Dohyung Kim Hyo-Sang Do | 2024/4/1 |
Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome | BMB reports | Yeonmi Lee Jongsuk Han Sae-Byeok Hwang Soon-Suk Kang Hyeoung-Bin Son | 2023/8/8 |
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature | Yunha Choi Jungmin Choi Hyosang Do Soojin Hwang Go Hun Seo | 2023/4 | |
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing | Molecular Therapy-Nucleic Acids | Gayoung Jang Ha Rim Shin Hyo-Sang Do Jiyeon Kweon Soojin Hwang | 2023/3/14 |
Genetic heterogeneity of cardiomyopathy and its correlation with patient care | BMC Medical Genomics | Mi Jin Kim Seulgi Cha Jae Suk Baek Jeong Jin Yu Go Hun Seo | 2023/10/30 |
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review | JIMD reports | Soojin Hwang Yunha Choi Beom Hee Lee Jin‐Ho Choi Ja Hye Kim | 2023/1 |
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application | Clinical Genetics | Jiwon Jung Joo Hoon Lee Go Hun Seo Changwon Keum Hee Gyung Kang | 2023/9 |
Efficacy and safety of selumetinib in pediatric patients with neurofibromatosis type 1: a systematic review and meta-analysis | Jisun Hwang Hee Mang Yoon Beom Hee Lee Pyeong Hwa Kim Kyung Won Kim | 2022/3/1 | |
Evaluation of users’ level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases | Medicine | In Hee Choi Go Hun Seo JeongYun Park Yoon-Myung Kim Chong Kun Cheon | 2022/7/15 |
Aberrant cortical layer development of brain organoids derived from noonan syndrome-iPSCs | International Journal of Molecular Sciences | Bumsoo Kim Yongjun Koh Hyunsu Do Younghee Ju Jong Bin Choi | 2022/11/10 |
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta | Annals of Pediatric Endocrinology & Metabolism | Yunha Choi Soojin Hwang Gu-Hwan Kim Beom Hee Lee Han-Wook Yoo | 2022/3 |
Clinical and genetic analyses and treatment outcomes of patients with lateralized overgrowth | Yoon-Myung Kim Yena Lee Yunha Choi In-Hee Choi Sun Hee Heo | 2022/6/21 | |
Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease. | Congenital Heart Disease | Jun Sung Park Go Hun Seo Yunha Choi Soojin Hwang Minji Kang | 2022/11/1 |
eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development | Genetics in Medicine | Go Hun Seo Jungsul Lee Heonjong Han You Kyung Cho Minji Kim | 2022/3/1 |
Phenotypic and genetic complexity in pediatric movement disorders | Frontiers in Genetics | Min-Jee Kim Mi-Sun Yum Go Hun Seo Tae-Sung Ko Beom Hee Lee | 2022/6/1 |
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly | The American Journal of Human Genetics | Quentin Thomas Marialetizia Motta Thierry Gautier Maha S Zaki Andrea Ciolfi | 2022/10/6 |
Clinical and genetic features of four patients with Pearson syndrome: An observational study | Medicine | Ji Soo Son Go Hun Seo Yoon-Myung Kim Gu-Hwan Kim Hee Kyung Jin | 2022/2/4 |
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease | Clinical and Translational Medicine | Eun Na Kim Hyo‐Sang Do Hwangkyo Jeong Taeho Kim Sun Hee Heo | 2022/5 |
Clinical and genetic analyses of patients with lateralized overgrowth | BMC Medical Genomics | Yoon-Myung Kim Yena Lee Yunha Choi In Hee Choi Sun Hee Heo | 2022/9/30 |
Co-Authors
