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The Journal of Clinical Endocrinology and Metabolism|September 26, 2025
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome StudyYena Lee, Hwal Rim Jeong, Eun Young Kim, et al.Molecular Neurobiology|March 21, 2023
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic VariantsLuiza D Chaves, Laura M L Carvalho, Giovanna C Tolezano, et al.Journal of Clinical Immunology|May 17, 2024
Inherited CARD9 Deficiency Due to a Founder Effect in East AsiaDan Tomomasa, Beom Hee Lee, Yuki Hirata, et al.Clinical Genetics|September 9, 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCEGo Hun Seo, Taeho Kim, In Hee Choi, et al.International Journal of Molecular Sciences|December 11, 2022
Congenital Stationary Night Blindness: Clinical and Genetic FeaturesAngela H Kim, Pei-Kang Liu, Yin-Hsi Chang, et al.Journal of Medical Genetics|October 26, 2019
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsyYoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, et al.International Journal of Molecular Sciences|August 28, 2025
Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal HyperinsulinemiaMiguel Angel Alcántara-Ortigoza, Marcela Vela-Amieva, Ariadna González-Del Angel, et al.Molecular Medicine (Cambridge, Mass.)|March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delayGo Hun Seo, Hane Lee, Jungsul Lee, et al.Human Mutation|April 14, 2025
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support ProgramRin Khang, Hane Lee, Jihye Kim, et al.Medicine|July 15, 2022
Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseasesIn Hee Choi, Go Hun Seo, JeongYun Park, et al.Pageof 11