Browsing by 저자 : 이범희
전체 결과 31건 중 1-31 번을 표시중입니다.
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1
Dissertation
ANKRD11 유전자 돌연변이를 보유한 KBG 증후군 환자의 유전학적 특징과 임상 증상
최정민
2021
- 2 Article Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature 강민지 ; 강은구 ; 백인정 ; et al 2021
- 3 Article Case of a 21-Year-Old Man With Hemoptysis, Recurrent Pneumothorax, and Cavitary Lung Lesions 김용길 ; 김호철 ; 이근동 ; et al 2021
- 4 Article Case of a 21-Year-Old Man With Hemoptysis, Recurrent Pneumothorax, and Cavitary Lung Lesions 김용길 ; 김호철 ; 이근동 ; et al 2021
- 5 Article Clinical and molecular spectra of BRAF-associated RASopathy 고정민 ; 금창원 ; 김구환 ; et al 2021
- 6 Article Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders 김민지 ; 서고훈 ; 염미선 ; et al 2020
- 7 Article Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients 김유나 ; 김윤전 ; 서고훈 ; et al 2020
- 8 Article De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans 강은주 ; 김종재 ; 김태호 ; et al 2021
- 9 Article De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans 강은주 ; 김종재 ; 김태호 ; et al 2021
- 10 Article Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome 금창원 ; 김태호 ; 서고훈 ; et al 2020
- 11 Article Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia 고태성 ; 염미선 ; 이범희 ; et al 2020
- 12 Article Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system,EVIDENCE 김윤전 ; 윤영희 ; 이범희 ; et al 2020
- 13 Article Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort 금창원 ; 김유나 ; 김윤전 ; et al 2021
- 14 Article Ehlers?Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report 송진우 ; 이범희 ; Jooae Choe ; et al 2021
- 15 Article Fatal Outcome of Autosomal Recessive Polycystic Kidney Disease in Neonates With Recessive PKHD1 Mutations 김구환 ; 김애란 ; 김유미 ; et al 2020
- 16 Article High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy 강민지 ; 김애란 ; 김영휘 ; et al 2021
- 17 Article Human Embryonic Stem Cell-Derived Wilson’s Disease Model for Screening Drug Efficacy 김동규 ; 김수빈 ; 김종훈 ; et al 2020
- 18 Article Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease 김중곤 ; 남기병 ; 양지명 ; et al 2020
- 19 Article Neurofibromatosis type I: points to be considered by general pediatricians 강은구 ; 윤희망 ; 이범희 2021
- 20 Article Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea 금창원 ; 김구환 ; 김유미 ; et al 2021
- 21 Article Psychological characteristics of adult neurofibromatosis type 1 patients seeking elective surgery 김은기 ; 민경현 ; 이범희 ; et al 2020
- 22 Article Psychological Impact of Quarantine on Caregivers at a Children's Hospital for Contact with Case of COVID-19 고경남 ; 고태성 ; 김민재 ; et al 2020
- 23 Article Surgical Interventions and Clinical Outcomes of Patients with Trisomy 18: a Single Center Experience 오문연 ; 이병섭 ; 차태현 ; et al 2020
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24
dissertation
SWI/SNF 관련 한국인 지적 장애 환자의 임상상 및 분자 유전학적 스펙트럼
이예나
2022
- 25 Article The GBA p.G85E mutation in?Korean patients with?non-neuronopathic Gaucher disease: founder and?neuroprotective effects 김유미 ; 최진호 ; 김구환 ; et al 2020
- 26 Article The Rho-associated kinase inhibitor fasudil can replace Y-27632 for use in human pluripotent stem cell research 소성준 ; 이연미 ; 최지완 ; et al 2020
- 27 Article Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management 강희경 ; 금창원 ; 박영서 ; et al 2021
- 28 Article Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data 이범희 ; Agata Fiumara ; Alicia Chan ; et al 2021
- 29 Article 부계 완간역위에서 유래한 11pter 중복과 11qter 결실로 발생한 Beckwith-Wiedemann 증후군과 Jacobsen 증후군 1예 최원규 ; 임성은 ; 김구환 ; et al 2020
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30
Dissertation
분절 과증식 증후군 환자의 임상적 유전학적 특성과 치료 경과에 대한 고찰
김윤명
2021
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31
Dissertation
세 명의 선천성 무통각증 및 무한증 환아들의 임상 양상 및 유전 변이에 대한 연구
조준희
2024
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