Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ju Hyuen Cha"'
Autor:
Won Hoon Choi, Yeijean Cho, Ju Hyuen Cha, Dae Hee Lee, Jong Gwan Jeong, Sung Ho Jung, Jae-Jin Song, Jun Ho Lee, Sang-Yeon Lee
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Advances in next-generation sequencing technologies have led to elucidation of sensorineural hearing loss genetics and associated clinical impacts. However, studies on the functional pathogenicity of variants of uncertain significance (VUS),
Externí odkaz:
https://doaj.org/article/1b056249d8e546618ee0ff7a8b3b5ca8
Autor:
Hwalin Yi, Yejin Yun, Won Hoon Choi, Hye-Yeon Hwang, Ju Hyuen Cha, Heeyoung Seok, Jae-Jin Song, Jun Ho Lee, Sang-Yeon Lee, Daesik Kim
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102199- (2024)
Pathogenic structure variations (SVs) are associated with various types of cancer and rare genetic diseases. Recent studies have used Cas9 nuclease with paired guide RNAs (gRNAs) to generate targeted chromosomal rearrangements, focusing on producing
Externí odkaz:
https://doaj.org/article/8c333f9f30f44066829147680fbc0ce9
Autor:
Somin Lee, Yejin Yun, Ju Hyuen Cha, Jin Hee Han, Dae Hee Lee, Jae-Jin Song, Moo Kyun Park, Jun Ho Lee, Seung Ha Oh, Byung Yoon Choi, Sang-Yeon Lee
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial arch, and renal system. Sporadic cases of atypical BOR/BO syndrome have be
Externí odkaz:
https://doaj.org/article/7877d998df4b40d28ae47aec50d32678