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Showing results 1 to 13 of 13

Issue Date	Title / Author(s) / Citation	File
2006	A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva Shore, Eileen M; Xu, Meiqi; Feldman, George J; Fenstermacher, David A; Cho, Tae-Joon; Choi, In Ho; Connor, J Michael; Delai, Patricia; Glaser, David L; LeMerrer, Martine; Morhart, Rolf; Rogers, John G; Smith, Roger; Triffitt, James T; Urtizberea, J Andoni; Zasloff, Michael; Brown, Matthew A; Kaplan, Frederick S Nat. Genet. 38, 525-527	link
2006	Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations Kang, H R; Yim, E Y; Oh, S Y; Chang, Y S; Kim, Y K; Cho, S H; Min, K U; Kim, Y Y Allergy. 2006 Feb;61(2):260-4.	link
2006	Familial occurrence of moyamoya disease: a clinical study Seol, Ho Jun; Wang, Kyu-Chang; Kim, Seung-Ki; Hwang, Yong-Seung; Kim, Ki Joong; Cho, Byung-Kyu Childs Nerv Syst. 2006 Sep;22(9):1143-8. Epub 2006 Mar 25.	link
2006	PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning Chung, W.; Kim, H.; Hwang, Y. H.; Kim, S. Y.; Ko, A. R.; Ro, H.; Lee, K. B.; Lee, J. S.; Oh, K. H.; Ahn, C. Clin Genet. 2006 Dec;70(6):502-8.	link
2006	PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning Chung, W; Kim, H; Hwang, Y H; Kim, S Y; Ko, A-R; Ro, H; Lee, K B; Lee, J S; Oh, K-H; Ahn, C Clin Genet. 2006 Dec;70(6):502-8.	link
2007	Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios Cho, In Hee; Yoo, Hee Jeong; Park, Mira; Lee, Young Sik; Kim, Soon Ae Brain Res. 2007 Mar 30;1139:34-41. Epub 2007 Jan 8.	link
2007	A clinico-genetic study of renal coloboma syndrome in children Cheong, Hae Il; Cho, Hee Yeon; Kim, Jeong Hun; Yu, Young Suk; Ha, Il Soo; Choi, Yong Pediatr Nephrol. 2007 Sep;22(9):1283-9. Epub 2007 May 31.	link
2007	Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism Kim, Jong-Min; Hong, Susie; Kim, Gyoung Pyoung; Choi, Yoon Jae; Kim, Yu Kyeong; Park, Sung Sup; Kim, Sang Eun; Jeon, Beom S Arch Neurol. 2007 Oct;64(10):1510-8.	link
2008	A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child Lee, Jeong Hee; Bae, Sun Hwan; Yu, Jeong Jin; Lee, Ran; Yun, Yeo Min; Song, Eun Young J Korean Med Sci. 2008 Feb;23(1):142-5.	view file link
2008	No evidence of an association between norepinephrine transporter gene polymorphisms and attention deficit hyperactivity disorder: a family-based and case-control association study in a Korean sample Cho, Soo-Churl; Kim, Jae-Won; Kim, Boong-Nyun; Hwang, Jun-Won; Park, Mira; Kim, Soon Ae; Cho, Dae-Yeon; Yoo, Hee-Jeong; Chung, Un-Sun; Son, Jung-Woo; Park, Tae-Won Neuropsychobiology 2008;57(3):131-138	DOI
2009	Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy Ki, Chang-Seok; Lee, Seung-Tae; Kim, Kyung-Sook; Kim, Jong-Won; Hong, Yoon-Ho; Sung, Jung-Joon; Park, Kyung Seok; Lee, Kwang-Woo J Korean Med Sci. 2008; 23(6): 959-63	view file DOI
2009	Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans Kim, So Yeon; Kim, Ji Yeon; Kim, Gyoung Pyoung; Sung, Jung-Jun; Lim, Kyu Sang; Lee, Kwang-Woo; Chae, Jong Hee; Hong, Yoon-Ho; Seong, Moon-Woo; Park, Sung Sup Korean J Lab Med. 2008;28(6):483-492	view file link
2015	Genetic evaluation and association study of candidate gene using SNP and pedigree data in domestic animal 박종은	view file

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