Zobrazeno 1 - 10
of 5 505
pro vyhledávání: '"Jung-In Ko"'
Autor:
Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Ectodermal dysplasia (ED) is a rare genetic disorder that affects structures derived from the ectodermal germ layer. Results In this study, we analyzed the genetic profiles of 27 Korean patients with ED. Whole exome sequencing (WE
Externí odkaz:
https://doaj.org/article/5e5555b0c8b14cfdaa0a6b8cee224017
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 9, Iss 3, Pp 184-188 (2024)
Background: KBG syndrome is a rare autosomal dominant genetic disease characterized by facial dysmorphism, developmental disorders, and short stature. The syndrome is caused by the haploinsufficiency of the ankyrin repeat domain-containing protein 11
Externí odkaz:
https://doaj.org/article/05d967908e5e4381b75348602882ce34
Autor:
Jun Sung Moon, Shinae Kang, Jong Han Choi, Kyung Ae Lee, Joon Ho Moon, Suk Chon, Dae Jung Kim, Hyun Jin Kim, Ji A Seo, Mee Kyoung Kim, Jeong Hyun Lim, Yoon Ju Song, Ye Seul Yang, Jae Hyeon Kim, You-Bin Lee, Junghyun Noh, Kyu Yeon Hur, Jong Suk Park, Sang Youl Rhee, Hae Jin Kim, Hyun Min Kim, Jung Hae Ko, Nam Hoon Kim, Chong Hwa Kim, Jeeyun Ahn, Tae Jung Oh, Soo-Kyung Kim, Jaehyun Kim, Eugene Han, Sang-Man Jin, Jaehyun Bae, Eonju Jeon, Ji Min Kim, Seon Mee Kang, Jung Hwan Park, Jae-Seung Yun, Bong-Soo Cha, Min Kyong Moon, Byung-Wan Lee
Publikováno v:
Diabetes & Metabolism Journal, Vol 48, Iss 4, Pp 546-708 (2024)
Externí odkaz:
https://doaj.org/article/1ca1a0c775dc4613bbda82213581a6e5
Autor:
Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, Hyun Young Kim, Man Jin Kim, Moon Woo Seong, Young Hun Choi, Gyeong Hoon Kang, Jaemoon Koh, Jin Soo Moon
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a unique type of inflammatory bowel disease. CEAS is monogenic disease and is thought to develop from childhood, but studies on pediatric CEAS are scarce. We analyzed char
Externí odkaz:
https://doaj.org/article/518ea443ccee481782bfb784e1c26644
Autor:
Ka Young Kim, You Joung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Chang Seok Ki, Yun Jeong Lee
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Familial chylomicronemia syndrome (FCS) is a rare monogenic form of severe hypertriglyceridemia, caused by mutations in genes involved in triglyceride metabolism. Herein, we report the case of a Korean family with familial chylomi
Externí odkaz:
https://doaj.org/article/2ce140da71f2407dbca13db37e420e78
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)
ABSTRACT Introduction Holocarboxylase synthetase deficiency (HLCS deficiency, OMIM #253270) is an exceedingly rare metabolic disorder resulting in multiple carboxylase deficiencies owing to impaired biotin cycle. Clinical manifestations include sever
Externí odkaz:
https://doaj.org/article/4959441a6d4c46a5a75fbc5c95d12ccf
Autor:
Seung Min Shin, Ji Young Lee, Heo Nam Hun, Se Woong Choo, Yong Pyo Jeon, Jaewoo Chung, Jung Ho Ko, Hae-Won Koo, Dong Seoung Shin, Man Ryul Lee, Jae Sang Oh
Publikováno v:
Heliyon, Vol 10, Iss 15, Pp e35205- (2024)
Objective: We aimed to examine the effectiveness and safety of a novel torque-controlled catheter for cerebral angiography. Methods: A total of 417 patients who underwent routine transfemoral cerebral angiography were enrolled in a randomized control
Externí odkaz:
https://doaj.org/article/2512fde5205144419401f6a5c71d74dd
Autor:
Jung Min Ko
Publikováno v:
Clinical and Experimental Pediatrics, Vol 67, Iss 7, Pp 356-357 (2024)
Externí odkaz:
https://doaj.org/article/f31e59a095974ba7a8efaf03de516262
Autor:
Jung-Woo Ko, Ye-Jin Kim, Hye-Rim Ryu, Min-Kyeong Kim, Chorong Ahn, Changmu Kim, Cheon-Seok Park
Publikováno v:
한국균학회지, Vol 51, Iss 4, Pp 287-306 (2023)
According to our previous study, 500 species of yeast exist in Korea, including nine variants comprising 142 genera and 48 classes in two phyla. Additionally, 4,483 fungal species have been documented at the National Institute of Biological Resources
Externí odkaz:
https://doaj.org/article/4e51969b1e3a4039934c0a6a954f5765
Autor:
Seulki Song, Youngil Koh, Seokhyeon Kim, Sang Mi Lee, Hyun Uk Kim, Jung Min Ko, Se-Hoon Lee, Sung-Soo Yoon, Solip Park
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Abstract Background Despite the acceleration of somatic driver gene discovery facilitated by recent large-scale tumor sequencing data, the contribution of inherited variants remains largely unexplored, primarily focusing on previously known cancer pr
Externí odkaz:
https://doaj.org/article/feaa30f96f7c4840884dcfe8a4b7b203