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Annals of Pediatric Endocrinology & Metabolism|January 3, 2019
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic ricketsMisun Yang, Jinsup Kim, Aram Yang, et al.Annals of Clinical and Laboratory Science|April 19, 2015
Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1Karn Wejaphikul, Sung Yoon Cho, Rimm Huh, et al.Frontiers in Endocrinology|November 8, 2021
Appropriate Age for Height Control Treatment in Patients With Marfan SyndromeSung Eun Kim, Dong-Yun Lee, Min-Sun Kim, et al.Medicine|January 14, 2022
Late-infantile GM1 gangliosidosis: A case reportEu Seon Noh, Hye Mi Park, Min Sun Kim, et al.Annals of Clinical and Laboratory Science|February 20, 2015
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean familySung Yoon Cho, Ji-Ho Lee, Chang-Seok Ki, et al.Journal of Korean Medical Science|July 16, 2013
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1Sung Yoon Cho, Chang-Seok Ki, Young Bae Sohn, et al.Journal of Personalized Medicine|June 24, 2022
Endocrine and Metabolic Illnesses in Young Adults with Prader-Willi SyndromeEu-Seon Noh, Min-Sun Kim, Chiwoo Kim, et al.Medicine|October 21, 2024
Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort studyInsung Kim, Juyoung Sung, Yoon Ji Ahn, et al.Annals of Clinical and Laboratory Science|January 6, 2019
Rare Association of Mucolipidosis III alpha/beta with Dilated CardiomyopathyMin Jung Kwak, Hye Won Lee, Young Mi Kim, et al.Annals of Human Genetics|February 8, 2019
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrumAram Yang, Jinsup Kim, Ja-Hyun Jang, et al.Pageof 12