Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Joon-Suk Lee"'
Autor:
Jinsei Jung, Haiyue Lin, Young Ik Koh, Kunhi Ryu, Joon Suk Lee, John Hoon Rim, Hye Ji Choi, Hak Joon Lee, Hye-Youn Kim, Seyoung Yu, Hyunsoo Jin, Ji Hyun Lee, Min Goo Lee, Wan Namkung, Jae Young Choi, Heon Yung Gee
Publikováno v:
Experimental and Molecular Medicine, Vol 51, Iss 8, Pp 1-12 (2019)
Deafness: Missed mutations raise risk of hearing loss A gene associated with hereditary hearing loss may play a greater role than previously recognized in age-related auditory impairment. Many cases of autosomal dominant non-syndromic hearing loss (A
Externí odkaz:
https://doaj.org/article/1c13ce7184b8449eaae8dd72fdbf6940
Autor:
Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of nonsyndromic hearing loss, deafness nonsyndromic autosomal dominant 2 (DFNA2). We performed whole-exome sequencing for 98 familie
Externí odkaz:
https://doaj.org/article/558c537c36fb4883a39a87434fd1dd89
Autor:
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members u
Externí odkaz:
https://doaj.org/article/a358403a4746483db20221782fa0b5d2
Autor:
Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38
Externí odkaz:
https://doaj.org/article/c613dde51467479aa4529965d8eacc79
Publikováno v:
Journal of Accounting Research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8290282783353ff2011eb6c69004643a
https://doi.org/10.1111/1475-679x.12485
https://doi.org/10.1111/1475-679x.12485
Autor:
Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
Publikováno v:
PLoS Genetics, Vol 14, Iss 3, p e1007316 (2018)
Zinc finger MYND-type-containing 10 (ZMYND10), a cytoplasmic protein expressed in ciliated cells, causes primary ciliary dyskinesia (PCD) when mutated; however, its function is poorly understood. Therefore, in this study, we examined the roles of ZMY
Externí odkaz:
https://doaj.org/article/fbaf8fccfecf40fb8276832a9b288c32
Publikováno v:
Archives of Orthopaedic and Trauma Surgery. 142:197-203
The purpose of this study was to report the clinical outcome of revision arthroscopic triangular fibrocartilage complex (TFCC) foveal repair using a one-tunnel transosseous suture technique after failed primary TFCC repair. Consecutive patients treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca49c63a72c4839a1d8568fb5144cf9
https://doi.org/10.1007/s00402-020-03613-1
https://doi.org/10.1007/s00402-020-03613-1
Autor:
Denise Daniels, Joon Suk Lee
Publikováno v:
Learning and Collaboration Technologies. Novel Technological Environments ISBN: 9783031056741
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54482ec3cafb5184308dd8e1221ee2a2
https://doi.org/10.1007/978-3-031-05675-8_13
https://doi.org/10.1007/978-3-031-05675-8_13
Publikováno v:
Journal of the East Asian Society of Dietary Life. 29:281-290
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6eed495b8f9d78aa1d6fb7bf8a4ebb74
https://doi.org/10.17495/easdl.2019.8.29.4.281
https://doi.org/10.17495/easdl.2019.8.29.4.281
Autor:
Seyoung Yu, Ji Hyun Lee, Min Goo Lee, Joon Suk Lee, John Hoon Rim, Haiyue Lin, Jae Young Choi, Heon Yung Gee, Jinsei Jung, Hyunsoo Jin, Wan Namkung, Hye Youn Kim, Hye Ji Choi, Young Ik Koh, Kunhi Ryu, Hak Joon Lee
Publikováno v:
Experimental and Molecular Medicine, Vol 51, Iss 8, Pp 1-12 (2019)
Experimental & Molecular Medicine
Experimental & Molecular Medicine
KCNQ4 is frequently mutated in autosomal dominant non-syndromic hearing loss (NSHL), a typically late-onset, initially high-frequency loss that progresses over time (DFNA2). Most KCNQ4 mutations linked to hearing loss are clustered around the pore re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84aa0834e0b33bfa995b679276bee1c3
https://doi.org/10.1038/s12276-019-0300-9
https://doi.org/10.1038/s12276-019-0300-9