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Molecular Pharmaceutics|September 16, 2015
Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion ProteinSu Jin Kim, Hyun-Hee Kwak, Sung Yoon Cho, et al.Annals of Clinical and Laboratory Science|June 18, 2016
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature ReviewEu Gene Park, Sung Yoon Cho, Jeehun Lee, et al.Journal of Personalized Medicine|May 28, 2022
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type IIIMin-Sun Kim, Aram Yang, Eu-Seon Noh, et al.Journal of Korean Medical Science|May 8, 2012
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidenceDoosoo Kim, Sung Yoon Cho, Sung-Hee Yeau, et al.Annals of Pediatric Endocrinology & Metabolism|April 4, 2022
Clinical practice guidelines for optimizing bone health in Korean children and adolescentsYoung Ah Lee, Ahreum Kwon, Jae Hyun Kim, et al.Italian Journal of Pediatrics|February 18, 2022
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variabilityPiero Pavone, Xena Giada Pappalardo, Naira Mustafa, et al.Annals of Pediatric Endocrinology & Metabolism|January 18, 2022
First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature reviewAri Song, Minji Im, Min-Sun Kim, et al.Annals of Clinical and Laboratory Science|December 18, 2020
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature ReviewGwang-Jun Choi, Min-Sun Kim, Hyojung Park, et al.Annals of Clinical and Laboratory Science|February 29, 2012
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 geneYoung Bae Sohn, Hyung-Doo Park, Sung Won Park, et al.Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|October 22, 2019
Auditory Characteristics in Patients With MucopolysaccharidosisJungmin Ahn, Jung Joo Lee, Song-I Park, et al.Pageof 12