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BMC Medical Genetics|March 7, 2018
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencingYoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 26, 2025
Hereditary, non HINT1 related, axonal neuropathy with neuromyotoniaKanellos C Spiliopoulos, Dimitra Veltsista, Eirini Veltsou, et al.Hormones (Athens, Greece)|July 24, 2024
46,ΧΥ DSD in an adolescent with a novel de novo variant of the NR5A1 gene - case report and literature reviewEirini Kostopoulou, Andreas Eliades, Alexia Papatheodoropoulou, et al.Frontiers in Genetics|April 4, 2022
Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene-Long-Term Follow-Up of a SiblingDong Jun Ha, Jisun Park, Go Hun Seo, et al.Frontiers in Pediatrics|February 6, 2025
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelinationYoong-A Suh, Jisun Hwang, Go Hun Seo, et al.Molecules (Basel, Switzerland)|April 16, 2020
Recent Advances in the Application of Antibacterial Complexes Using Essential OilsTae Jin Cho, Sun Min Park, Hary Yu, et al.Journal of Human Genetics|May 19, 2018
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in KoreaDahye Kim, Jung Min Ko, Yoon-Myung Kim, et al.Brain & Development|March 2, 2020
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndromeHyunji Ahn, Go Hun Seo, Changwon Keum, et al.Cornea|February 18, 2025
Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB VariantIrving M Raber, Ashley Khalili, Rin Khang, et al.Journal of Clinical Medicine|November 25, 2020
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic DisordersMin-Jee Kim, Mi-Sun Yum, Go Hun Seo, et al.Pageof 11