Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Joungsu Joo"'
Autor:
Hyuk-Jung Kwon, Sun Hye Shin, Hyun Ho Kim, Na Young Min, YuGyeong Lim, Tae-woon Joo, Kyoung Joo Lee, Min-Seon Jeong, Hyojung Kim, Seon-young Yun, YoonHee Kim, Dabin Park, Joungsu Joo, Jin-Sik Bae, Sunghoon Lee, Byeong-Ho Jeong, Kyungjong Lee, Hayemin Lee, Hong Kwan Kim, Kyongchol Kim, Sang-Won Um, Changhyeok An, Min Seob Lee
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Methylation patterns in cell-free DNA (cfDNA) have emerged as a promising genomic feature for detecting the presence of cancer and determining its origin. The purpose of this study was to evaluate the diagnostic performance of methylation-se
Externí odkaz:
https://doaj.org/article/74a44ba36e834f56894f25a22177aaf1
Autor:
Hyuk-Jung Kwon, Ui-Hyun Park, Chul Jun Goh, Dabin Park, Yu Gyeong Lim, Isaac Kise Lee, Woo-Jung Do, Kyoung Joo Lee, Hyojung Kim, Seon-Young Yun, Joungsu Joo, Na Young Min, Sunghoon Lee, Sang-Won Um, Min-Seob Lee
Publikováno v:
Cancers, Vol 15, Iss 18, p 4556 (2023)
Early detection of lung cancer is crucial for patient survival and treatment. Recent advancements in next-generation sequencing (NGS) analysis enable cell-free DNA (cfDNA) liquid biopsy to detect changes, like chromosomal rearrangements, somatic muta
Externí odkaz:
https://doaj.org/article/5d25e128c37b4c30b6aac1935921d265
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Background Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predicted to truncate the
Externí odkaz:
https://doaj.org/article/f54a1212751c4ac2a8e0252b981cc5b8
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-3 (2021)
Externí odkaz:
https://doaj.org/article/565cd932bae34a57b92cb387928675e3
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused
Externí odkaz:
https://doaj.org/article/cd61081e03d9432fa2365f5a731475f9
Autor:
Hye-Young Yoo, Ki-Chan Lee, Ji-Eun Woo, Sung-Ha Park, Sunghoon Lee, Joungsu Joo, Jin-Sik Bae, Hyuk-Jung Kwon, Byoung-Jun Park
Publikováno v:
Clinical, Cosmetic and Investigational Dermatology. 15:433-445
Hye-Young Yoo,1,* Ki-Chan Lee,2,* Ji-Eun Woo,1 Sung-Ha Park,1 Sunghoon Lee,2 Joungsu Joo,2 Jin-Sik Bae,2 Hyuk-Jung Kwon,2 Byoung-Jun Park1 1Skin & Natural Products Lab, Kolmar Korea Co., Ltd., Seoul, 06800, Republic of Korea; 2R&D Department,
Publikováno v:
Rice Science. 27:1-4
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-10 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-10 (2021)
Background Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predicted to truncate the whole AT
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics
Frontiers in Genetics
Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused
Autor:
Sung Hoon Lee, Joungsu Joo, Heesu Im, Min Seob Lee, Hyuk Jung Kwon, Katiyar P. Shashank, Jin-Sik Bae, Amit Goyal, Seon Young Yun
Publikováno v:
Open Journal of Genetics. :42-53
Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testing (NIPT) method, using cell-free DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in over 7910 clinical samples from So