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BMC Medical Genetics|March 7, 2018
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencingYoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, et al.Experimental & Molecular Medicine|March 17, 2009
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry diseaseJung Young Park, Gu Hwan Kim, Sung Su Kim, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2008
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutationMi J Kim, Sang R Jeon, Han-Wook Yoo, et al.Annals of Pediatric Endocrinology & Metabolism|June 14, 2014
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literatureChong Kun Cheon, Hoon Sang Lee, Su Yung Kim, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|January 1, 2022
Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiencyYunha Choi, Arum Oh, Yena Lee, et al.Molecular Genetics and Metabolism|January 10, 2012
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher diseaseBeom Hee Lee, Dae-Yeon Kim, Gu-Hwan Kim, et al.Gene|February 14, 2012
A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophyJeong A Park, Kyung Ran Jun, Sung-Hee Han, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|August 23, 2008
Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex developmentJin-Ho Choi, Gu-Hwan Kim, Eul-Ju Seo, et al.Journal of Pediatric Gastroenterology and Nutrition|March 19, 2011
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitisYeoun Joo Lee, Kyung Mo Kim, Jin Ho Choi, et al.Hormone Research in Paediatrics|March 2, 2010
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiencyJung Min Ko, Chong-Kun Cheon, Gu-Hwan Kim, et al.Pageof 18