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Showing results 1 to 9 of 9

Issue Date	Title / Author(s) / Citation	File	Altmetrics
2008-12	Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci Kim, Miyoung; Heo, Se Ran; Choi, Soon Hee; Kwon, Hyelin; Park, Jeong Su; Seong, Moon-Woo; Lee, Do-Hoon; Park, Kyoung Un; Song, Junghan; Kim, Eui-Chong BMC Microbiol. 2008 Dec 23;8:233.	view file link
2014-08	Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity Choi, Rihwa; Jo, Kyoung Il; Ko, Dae-Hyun; Lee, Dong Hwan; Song, Junghan; Jin, Dong-Kyu; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Lee, Yong-Wha; Park, Hyung-Doo BMC Medical Genetics, 15(1):94	view file DOI
2015-05	A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing Solomon, Ponnumony John; Margaret, Priya; Rajendran, Ramya; Ramalingam, Revathy; Menezes, Godfred A; Shirley, Alph S; Lee, Seung Jun; Seong, Moon-Woo; Park, Sung Sup; Seol, Dodam; Seo, Soo Hyun Italian Journal of Pediatrics, 41(1):38	view file DOI
2015-11	Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals Jang, Mi-Ae; Shin, Sue; Yoon, Jong Hyun; Ki, Chang-Seok BMC Medical Genetics, 16(1):109	view file DOI
2016-04	PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations Choi, Rihwa; Park, Hyung-Doo; Kang, Ben; Choi, So Yoon; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Choe, Yon Ho BMC Medical Genetics, 17(1):33	view file DOI
2016-07	Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma Lee, Jee-Soo; Lee, Ji-Hyun; Lee, Kyu Eun; Kim, Jung Hee; Hong, Joon Mo; Ra, Eun Kyung; Seo, Soo Hyun; Lee, Seung Jun; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo BMC Medical Genetics, 17(1):48	view file DOI
2016-07	Short telomere length and its correlation with gene mutations in myelodysplastic syndrome Hwang, Sang Mee; Kim, Seon Young; Kim, Jung Ah; Park, Hee-Sue; Park, Si Nae; Im, Kyongok; Kim, Kwantae; Kim, Sung-Min; Lee, Dong Soon Journal of Hematology & Oncology, 9(1):62	view file DOI
2019-03	The Korean undiagnosed diseases program: lessons from a one-year pilot project 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 Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68	view file DOI
2019-05	Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte Choi, Hyoung Soo; Choi, Qute; Kim, Jung-Ah; Im, Kyong Ok; Park, Si Nae; Park, Yoomi; Shin, Hee Young; Kang, Hyoung Jin; Kook, Hoon; Kim, Seon Young; Kim, Soo-Jeong; Kim, Inho; Kim, Ji Yoon; Kim, Hawk; Park, Kyung Duki; Park, Kyung Bae; Park, Meerim; Park, Sang Kyu; Park, Eun Sil; Park, Jeong-A; Park, Jun Eun; Park, Ji Kyoung; Baek, Hee Jo; Seo, Jeong Ho; Shim, Ye Jee; Ahn, Hyo Seop; Yoo, Keon Hee; Yoon, Hoi Soo; Won, Young-Woong; Lee, Kun Soo; Lee, Kwang Chul; Lee, Mee Jeong; Lee, Sun Ah; Lee, Jun Ah; Lee, Jae Min; Lee, Jae Hee; Lee, Ji Won; Lim, Young Tak; Jung, Hyun Joo; Chueh, Hee Won; Choi, Eun Jin; Jung, Hye Lim; Kim, Ju Han; Lee, Dong Soon Orphanet Journal of Rare Diseases. 14(1):114	view file DOI

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