Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11 von Yoon, Jong Seo, Park, Kyu Jung, Sohn, Young Bae, Lee, Hae Sang, Hwang, Jin Soon

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Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridizati... von Lee, Noo Ri, Yoon, Na Young, Jung, Minyoung, Kim, Ji-Yun, Seo, Seong Jun, Wang, Hye-Young, Lee, Hyeyoung, Sohn, Young Bae, Choi, Eung Ho

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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome von 김수진, 조성윤, 맹세현, 손영배, 김수진, 기창석, 진동규

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Disease-specific Growth Charts of Marfan Syndrome Patients in Korea von Kwun, Younghee, Kim, Su Jin, Lee, Jieun, Isojima, Tsuyoshi, Choi, Doo-Seok, Kim, Duk-Kyung, Huh, June, Kang, I-Seok, Chang, MiSun, Cho, Sung Yoon, Sohn, Young Bae, Park, Sung Won, Jin, Dong-Kyu

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The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses von Sohn, Young Bae, Yim, Shin-Young, Cho, Eun-Hae, Kim, Ok-Hwa

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Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1 von Cho, Sung Yoon, Ki, Chang-Seok, Sohn, Young Bae, Kim, Su Jin, Maeng, Se Hyun, Jin, Dong-Kyu

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Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study von Lee, Cha Gon, Park, Sang-Jin, Yun, Jun-No, Ko, Jung Min, Kim, Hyon-Ju, Yim, Shin-Young, Sohn, Young Bae

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A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease von Choi, Jin-Ho, Lee, Beom Hee, Ko, Jung Min, Sohn, Young Bae, Lee, Jin-Sung, Kim, Gu-Hwan, Heo, Sun Hee, Park, June-Young, Kim, Yoo-Mi, Kim, Ja-Hye, Yoo, Han-Wook

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Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome) von Cho, Sung Yoon, Huh, Rimm, Chang, Mi Sun, Lee, Jieun, Kwun, Younghee, Maeng, Se Hyun, Kim, Su Jin, Sohn, Young Bae, Park, Sung Won, Kwon, Eun-Kyung, Han, Sun Ju, Jung, Jooyoun, Jin, Dong-Kyu

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Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA von 이나희, 조성윤, 맹세현, 전태연, 손영배, 김수진, 박형두, 진동규

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An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report von Lee, Gil-Ho, An, So-Yeon, Sohn, Young Bae, Jeong, Seon-Yong, Chung, Yoon-Sok

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Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome von Lee, Cha Gon, Park, Sang-Jin, Yun, Jun-No, Yim, Shin-Young, Sohn, Young Bae

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Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence von Kim, Doosoo, Cho, Sung Yoon, Yeau, Sung-Hee, Park, Sung Won, Sohn, Young Bae, Kwon, Min-Jung, Kim, Ji-Yeon, Ki, Chang-Seok, Jin, Dong-Kyu

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Continuous renal replacement therapy in neonates weighing less than 3 kg von Sohn, Young Bae, Paik, Kyung Hoon, Cho, Hee Yeon, Kim, Su Jin, Park, Sung Won, Kim, Eun Sun, Chang, Yun Sil, Park, Won-Soon, Choi, Yoon-Ho, Jin, Dong-Kyu

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Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH von Lee, Cha Gon, Yun, Jun-No, Park, Sang-Jin, Sohn, Young Bae

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Delayed response of amylin levels after an oral glucose challenge in children with Prader-Willi syndrome von Lee, Hae Jeong, Choe, Yon Ho, Lee, Jee Hyun, Sohn, Young Bae, Kim, Su Jin, Park, Sung Won, Son, Jun Seok, Kim, Seon Woo, Jin, Dong-Kyu

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Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases von Kim, Bu Kyung, Sohn, Young Bae, Park, Sang-Jin, Yim, Shin-Young, Chung, Yoon-Sok

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LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls von 박성원, 이승태, 손영배, 조성윤, 김세화, 김수진, 김치화, 고아라, 백경훈, 김종원, 진동규

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A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation von Park, Sangwook, Sohn, Young Bae, Chung, In-Soon, Hong, Ji-Hee, Jung, Eun-Jung, Jeong, Seon-Yong, Jin, Hyun-Seok

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Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA von Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu

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