Browsing by 저자 : 서고훈
전체 결과 11건 중 1-11 번을 표시중입니다.
- 1 Article Clinical and molecular spectra of BRAF-associated RASopathy 고정민 ; 금창원 ; 김구환 ; et al 2021
- 2 Article Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders 김민지 ; 서고훈 ; 염미선 ; et al 2020
- 3 Article Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients 김유나 ; 김윤전 ; 서고훈 ; et al 2020
- 4 Article De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans 강은주 ; 김종재 ; 김태호 ; et al 2021
- 5 Article De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans 강은주 ; 김종재 ; 김태호 ; et al 2021
- 6 Article Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome 금창원 ; 김태호 ; 서고훈 ; et al 2020
- 7 Article Fatal Outcome of Autosomal Recessive Polycystic Kidney Disease in Neonates With Recessive PKHD1 Mutations 김구환 ; 김애란 ; 김유미 ; et al 2020
- 8 Article High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy 강민지 ; 김애란 ; 김영휘 ; et al 2021
- 9 Article Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea 금창원 ; 김구환 ; 김유미 ; et al 2021
- 10 Article Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management 강희경 ; 금창원 ; 박영서 ; et al 2021
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Dissertation
신경학적 윌슨병의 생화학 및 유전학적 특징
서고훈
2018
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