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Ulsan Univ. Repository

Browsing by 저자 : Beom Hee Lee

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전체 결과 18건 중 1-18 번을 표시중입니다.

1 Article Clinical and genetic analyses of patients with lateralized overgrowth Yoon-Myung Kim ; Yena Lee ; Yunha Choi ; et al 2022
2 Article Clinical and genetic features of four patients with Pearson syndrome An observational study Ji Soo Son ; Go Hun Seo ; Yoon-Myung Kim ; et al 2022
3 Article Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay Eungu Kang ; Minji Kim ; Su Jin Kim ; et al 2022
4 Article 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 ; et al 2022
5 Article Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases In Hee Choi ; Go Hun Seo ; JeongYun Park ; et al 2022
6 Article Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease Jun Sung Park ; Go Hun Seo ; Yunha Choi ; et al 2022
7 Article Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease Jong Bin Choi ; Dong-Won Seol ; Hyo-Sang Do ; et al 2023
8 Article Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application Jiwon Jung ; Joo Hoon Lee ; Go Hun Seo ; et al 2023
9 Article Genetic heterogeneity of cardiomyopathy and its correlation with patient care Mi Jin Kim ; Seulgi Cha ; Jae Suk Baek ; et al 2023
10 Article Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta Yunha Choi ; Soojin Hwang ; Gu-Hwan Kim ; et al 2022
11 Article Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease Eun Na Kim ; Hyo-Sang Do ; Hwangkyo Jeong ; et al 2022
12 Article KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature Yunha Choi ; Jungmin Choi ; Hyosang Do ; et al 2023
13 Article MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases Merel A Post ; Isis de Wit ; Fokje S M Zijlstra ; et al 2023
14 Article Phenotypic and Genetic Complexity in Pediatric Movement Disorders Min-Jee Kim ; Mi-Sun Yum ; Go Hun Seo ; et al 2022
15 Article Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome Yeonmi Lee ; Jongsuk Han ; Sae-Byeok Hwang ; et al 2023
16 Article Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing Gayoung Jang ; Ha Rim Shin ; Hyo-Sang Do ; et al 2023
17 Article Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency Yunha Choi ; Arum Oh ; Yena Lee ; et al 2022
18 Article Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression Eungu Kang ; Yoon-Myung Kim ; Yunha Choi ; et al 2022

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