[S10-1] Establishing patient-mimicking mutant mice for the development of gene editing therapy

Young Hoon Sung

한국실험동물학회 학술발표대회 논문집

2024 .07

Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa

김형태 ,  장자현 ,  강경은 외 2명

Laboratory Medicine Online

2018 .01

Retinitis pigmentosa associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

김용훈 ,  주광식 ,  성문우 외 2명

Korean Journal of Ophthalmology

2020 .01

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia

박형준 ,  이명준 ,  이지은 외 2명

Journal of Clinical Neurology

2018 .01

Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea

Chang-Seok Ki ,  M.D.

Annals of Laboratory Medicine

2019 .01

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family

No ,  een Ka ,  im 외 2명

Annals of Dermatology

2019 .01

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

이승준 ,  김은진 ,  조성임 외 8명

Annals of Laboratory Medicine

2018 .01

A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

이수정 ,  Sumai ,  a Kanwal 외 4명

Journal of Clinical Neurology

2019 .01

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

김희정 ,  김순기 ,  유기영 외 5명

Annals of Laboratory Medicine

2019 .01

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

Prenatal Diagnosis of a Fatal Case of Fetal Autosomal Dominant Polycystic Kidney Disease

서가원 ,  정지은 ,  홍승연 외 1명

Perinatology

2023 .03

Ocular Ischemic Syndrome as the Initial Presenting Feature of Cytomegalovirus Retinitis

김진현 ,  이승우

Korean Journal of Ophthalmology

2018 .01

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family

Shilin Yang ,  Shufen Chen ,  Yu-Qiong Jiao 외 3명

Journal of Clinical Neurology

2020 .01

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A

서수현 ,  김소연 ,  조성임 외 10명

Annals of Laboratory Medicine

2018 .01

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

Huma Ta ,  iq ,  Rashid Im 외 2명

Journal of Clinical Neurology

2018 .01

Branch Retinal Artery Occlusion Associated with Toxoplasma Retinitis

Ashley E. Neiweem ,  Denis Jusufbegovic

Korean Journal of Ophthalmology

2020 .01

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .01

Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy

Ali Me ,  t Koce ,  Mehmet Yasin Teke 외 3명

Journal of Retina

2019 .01

Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene

박형준 ,  김승민 ,  이정환 외 6명

Journal of Clinical Neurology

2017 .01

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01