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Annals of Clinical and Laboratory Science|October 17, 2020
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel SequencingGa Young Bae, Min Sun Kim, Ji-Yeon Kim, et al.Annals of Human Genetics|August 24, 2022
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequencesSang-Mi Kim, Eu Seon Noh, Jong-Ho Park, et al.Korean Journal of Pediatrics|September 11, 2013
A novel MLL2 gene mutation in a Korean patient with Kabuki syndromeSoo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, et al.Annals of Pediatric Endocrinology & Metabolism|April 8, 2020
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clueHosun Bae, Min-Sun Kim, Hyojung Park, et al.Neuro Endocrinology Letters|March 14, 2021
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1BHyojung Park, Min-Sun Kim, Jiyeon Kim, et al.Italian Journal of Pediatrics|December 6, 2019
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?Piero Pavone, Giovanni Corsello, Sung Yoon Cho, et al.Orphanet Journal of Rare Diseases|November 2, 2015
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type IISung Yoon Cho, Jeehun Lee, Ah-Ra Ko, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|June 17, 2017
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencingAram Yang, Sung Yoon Cho, Ja-Hyun Jang, et al.American Journal of Medical Genetics. Part A|May 14, 2011
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)Jeong-Yi Kwon, Kiljun Ko, Young Bae Sohn, et al.Journal of Pediatric Genetics|February 15, 2018
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell TumorArya Shambhavi, Smrithi Salian, Hitesh Shah, et al.Pageof 12