المؤلفون: Kim, Soo Yeon, Lim, Byung Chan, Lee, Jin Sook, Kim, Woo Joong, Kim, Hyuna, Ko, Jung Min, Kim, Ki Joong, Choi, Sun Ah, Kim, Hunmin, Hwang, Hee, Choi, Ji Eun, Cho, Anna, Moon, Jangsup, Seong, Moon Woo, Park, Sung Sup, Lee, Yun Jeong, Kim, Young Ok, Kim, Jon Soo, Kim, Won Seop, Kwon, Young Se, Park, June Dong, Ahn, Younjhin, Hwang, Joo-Yeon, Park, Hyun-Young, Lee, Youngha, Choi, Murim, Chae, Jong-Hee

المساهمون: 김수연, 임병찬, 이진숙, 김우중, 김현아, 고정민, 김기중, 최선아, 김훈민, 황희, 최지은, 조안나, 문장섭, 성문우, 박성섭, 이연정, 김영옥, 김전수, 김원섭, 권영세, 박준동, 안연진, 황주연, 박현영, 이영하, 최무림, 채종희

مصطلحات موضوعية: Rare disease, Undiagnosed disease program, Korea, Whole exome sequencing

العلاقة: Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68; http://hdl.handle.net/10371/147214Test

الإتاحة: https://doi.org/10.1186/s13023-019-1041-5Test
http://hdl.handle.net/10371/147214Test

المؤلفون: Sohn, Young Bae¹ (AUTHOR), Ko, Jung Min^1,2 (AUTHOR) jmko@snu.ac.kr, Jang, Ju Young¹ (AUTHOR), Seong, Moon-Woo³ (AUTHOR), Park, Sung Sup³ (AUTHOR), Suh, Dong In² (AUTHOR), Ko, Jae Sung² (AUTHOR), Shin, Choong-Ho² (AUTHOR)

المصدر: European Journal of Medical Genetics. Aug2019, Vol. 62 Issue 8, p103681-103681. 1p.

مصطلحات موضوعية: *CYSTIC fibrosis transmembrane conductance regulator, *CYSTIC fibrosis, *PSEUDOMONAS aeruginosa infections, *BURKHOLDERIA infections

مصطلحات جغرافية: SOUTH Korea, JAPAN