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Korean Journal of Pediatrics|December 27, 2016
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphismsYoon-Myung Kim, In-Hee Choi, Jun Suk Kim, et al.Journal of Human Genetics|March 14, 2014
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher diseaseKyu Ha Woo, Beom Hee Lee, Sun Hee Heo, et al.Endocrine Connections|May 18, 2026
Accumulated Safety Data of Recombinant Human Growth Hormone Therapy in Korean Children over a 10-Year Period: Interim Results from the LG Growth StudyYoo-Mi Kim, Young-Jun Rhie, Hyun-Wook Chae, et al.Clinical Endocrinology|September 20, 2015
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidismJa Hye Kim, Young-Lim Shin, Seung Yang, et al.Journal of Korean Medical Science|April 2, 2015
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher diseaseJin-Ho Choi, Beom Hee Lee, Jung Min Ko, et al.Molecular Medicine (Cambridge, Mass.)|March 3, 2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesYoo-Mi Kim, Ja Hye Kim, Jin Choi, et al.Experimental & Molecular Medicine|July 31, 2024
Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genesIl Bin Kim, Myeong-Heui Kim, Saehoon Jung, et al.Plos Genetics|September 19, 2022
Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human developmentJa Hye Kim, Shinwon Hwang, Hyeonju Son, et al.Journal of Human Genetics|June 1, 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndromeJi-Hee Yoon, Soojin Hwang, Hyunwoo Bae, et al.International Journal of Cardiology|June 10, 2018
Cardioprotective effect of substance P in a porcine model of acute myocardial infarctionDoo Sun Sim, Weon Kim, Kyung Hye Lee, et al.Pageof 7