Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
Kang, Eungu, Kim, Yoon-Myung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Ra, Young-Shin, Kim, Eun Key, Kim, Heyry, Heo, Sun-Hee, Kim, Gu-Hwan, Osborn, Mark J, Tolar, Jakub, Yoo, Han-Wook, Lee, Beom Hee
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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Journal Article
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
Kim, Yoon-Myung, Yum, Mi-Sun, Heo, Sun Hee, Kim, Taeho, Jin, Hee Kyung, Bae, Jae-sung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Lim, Hyun Taek, Kim, Hyo-Won, Ko, Tae-Sung, Lim, Hyeong‐Seok, Osborn, Mark J, Tolar, Jakub, Cozma, Claudia, Rolfs, Arndt, Zimran, Ari, Lee, Beom Hee, Yoo, Han-Wook
Published in Journal of medical genetics (01.02.2020)
Published in Journal of medical genetics (01.02.2020)
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Journal Article
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
Kang, Eungu, Kim, Yoon-Myung, Choi, Yunha, Lee, Yena, Kim, JunYoung, Choi, In Hee, Yoo, Han-Wook, Yoon, Hee Mang, Lee, Beom Hee
Published in Orphanet journal of rare diseases (29.01.2022)
Published in Orphanet journal of rare diseases (29.01.2022)
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Journal Article
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb
Kim, Yoon-Myung, Seo, Go Hun, Jung, Euiseok, Jang, Ja-Hyun, Kim, Sook Za, Lee, Beom Hee
Published in Journal of human genetics (01.03.2018)
Published in Journal of human genetics (01.03.2018)
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Journal Article
Clinical and genetic analyses of patients with lateralized overgrowth
Kim, Yoon-Myung, Lee, Yena, Choi, Yunha, Choi, In Hee, Heo, Sun Hee, Choi, Jung Min, Do, Hyo-Sang, Jang, Ja-Hyun, Yum, Mi-Sun, Yoo, Han-Wook, Lee, Beom Hee
Published in BMC medical genomics (30.09.2022)
Published in BMC medical genomics (30.09.2022)
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Journal Article
Additive Effects of Exercise or Nutrition Intervention in a 24-Month Multidisciplinary Treatment with a Booster Intervention for Children and Adolescents with Overweight or Obesity: The ICAAN Study
Woo, Sarah, Ju, Young-Su, Seo, Young-Gyun, Kim, Yoon-Myung, Lim, Hyunjung, Park, Kyung-Hee
Published in Nutrients (17.01.2022)
Published in Nutrients (17.01.2022)
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Journal Article
Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure
Sunwoo, Yoon, Kim, Yoon‐Myung, Kim, Eun Na, Oh, Seak‐Hee, Lee, Beom Hee
Published in Pediatrics international (01.03.2018)
Published in Pediatrics international (01.03.2018)
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Journal Article
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea
Kim, Dahye, Ko, Jung Min, Kim, Yoon-Myung, Seo, Go Hun, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook
Published in Journal of human genetics (01.07.2018)
Published in Journal of human genetics (01.07.2018)
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Journal Article
Biochemical and molecular characterisation of neurological Wilson disease
Seo, Go Hun, Kim, Yoon-Myung, Oh, Seak Hee, Chung, Sun Ju, Choi, In Hee, Kim, Gu-Hwan, Yum, Mi-Sun, Choi, Jin-Ho, Kim, Kyung Mo, Ko, Tae-Sung, Lee, Beom Hee, Yoo, Han-Wook
Published in Journal of medical genetics (01.09.2018)
Published in Journal of medical genetics (01.09.2018)
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Journal Article
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
Kang, Eungu, Kim, Yoon-Myung, Kang, Minji, Heo, Sun-Hee, Kim, Gu-Hwan, Choi, In-Hee, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee
Published in BMC pediatrics (08.03.2018)
Published in BMC pediatrics (08.03.2018)
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Journal Article
Quantitative Biodistribution and Pharmacokinetics Study of GMP-Grade Exosomes Labeled with 89Zr Radioisotope in Mice and Rats
Choi, Hojun, Kim, Myung-Yoon, Kim, Dae-Hwan, Yun, Hanoul, Oh, Byung-Koo, Kim, Su-Bin, Song, In-Ho, Park, Hyun-Soo, Kim, Sang-Eun, Park, Cheolhyoung, Choi, Chulhee
Published in Pharmaceutics (24.05.2022)
Published in Pharmaceutics (24.05.2022)
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Journal Article
Association between Physical Fitness and Cardiometabolic Risk of Children and Adolescents in Korea
Lee, Hyun-Suk, Jeong, Won-Wook, Choi, Yu-Jeong, Seo, Young-Gyun, Noh, Hye-Mi, Song, Hong-Ji, Paek, Yu-Jin, Kim, Yoon-Myung, Lim, Hyun-Jung, Lee, Hye-Ja, Jang, Han-Byul, Park, Sang-Ick, Park, Kyung-Hee
Published in Korean journal of family medicine (01.05.2019)
Published in Korean journal of family medicine (01.05.2019)
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Journal Article
Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report
Jung, Dai, Seo, Go Hun, Kim, Yoon-Myung, Choi, Jin-Ho, Yoo, Han-Wook
Published in Annals of pediatric endocrinology & metabolism (01.03.2018)
Published in Annals of pediatric endocrinology & metabolism (01.03.2018)
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Journal Article
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Kim, Yoon-Myung, Choi, In-Hee, Kim, Jun Suk, Kim, Ja Hye, Cho, Ja Hyang, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Seo, Eul-Ju, Yoo, Han-Wook
Published in Clinical and experimental pediatrics (01.11.2016)
Published in Clinical and experimental pediatrics (01.11.2016)
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Journal Article
Clinical and genetic features of four patients with Pearson syndrome: An observational study
Son, Ji Soo, Seo, Go Hun, Kim, Yoon-Myung, Kim, Gu-Hwan, Jin, Hee Kyung, Bae, Jae-Sung, Im, Ho Joon, Yoo, Han-Wook, Lee, Beom Hee
Published in Medicine (Baltimore) (04.02.2022)
Published in Medicine (Baltimore) (04.02.2022)
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Journal Article