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Molecular Genetics and Metabolism|September 16, 2014
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndromeYoung Bae Sohn, Sung Yoon Cho, Jieun Lee, et al.Pediatric Neurology|May 15, 2013
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1Jung Min Ko, Young Bae Sohn, Seon Yong Jeong, et al.Journal of Korean Medical Science|November 23, 2013
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case reportGil-Ho Lee, So-Yeon An, Young Bae Sohn, et al.Annals of Pediatric Endocrinology & Metabolism|October 6, 2018
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11Jong Seo Yoon, Kyu Jung Park, Young Bae Sohn, et al.Medicine|March 23, 2017
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genesHyung Keun Song, Young Bae Sohn, Yong Jun Choi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2025
Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohortYoung Bae Sohn, Aram Yang, Min-Sun Kim, 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.Orphanet Journal of Rare Diseases|September 13, 2019
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trialAram Yang, Jin-Ho Choi, Young Bae Sohn, et al.JCEM Case Reports|July 3, 2026
Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fracturesYu Jin Im, Young Bae Sohn, Yong Jun Choi, et al.Journal of Human Genetics|November 6, 2015
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patientsYoung Bae Sohn, Jung Min Ko, Choong Ho Shin, et al.Pageof 9