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Journal of Human Genetics|August 28, 2019
Identification of extremely rare mitochondrial disorders by whole exome sequencingGo Hun Seo, Arum Oh, Eun Na Kim, 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.Hormone Research in Paediatrics|July 11, 2012
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutationJin-Ho Choi, Beom Hee Lee, Chang-Woo Jung, et al.Journal of Human Genetics|October 11, 2020
Clinical and molecular spectra of BRAF-associated RASopathyYena Lee, Yunha Choi, Go Hun Seo, et al.Medicine|December 29, 2020
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotoniaHyunji Ahn, Go Hun Seo, Arum Oh, 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.Liver International : Official Journal of the International Association for the Study of the Liver|June 8, 2011
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohortBeom H Lee, Joo H Kim, Sun Y Lee, et al.Molecular Genetics and Metabolism|December 19, 2012
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutationsBeom Hee Lee, Yoo-Mi Kim, Sun Hee Heo, et al.Clinical Endocrinology|April 28, 2011
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidismHye Young Jin, Beom Hee Lee, Jin-Ho Choi, 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.Pageof 18