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Annals of Clinical and Laboratory Science|July 1, 2022
A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case ReportJeong Ho Ahn, Seung Hwan Oh, Ji Kyoung Park, et al.Plos One|July 23, 2021
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center studyUnKyu Yun, Seung-Ah Lee, Won Ah Choi, et al.Annals of Pediatric Endocrinology & Metabolism|January 6, 2021
An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidismJung Hyun Shin, Go Hun Seo, Seung Hwan Oh, et al.Medicine|February 4, 2022
Clinical and genetic features of four patients with Pearson syndrome: An observational studyJi Soo Son, Go Hun Seo, Yoon-Myung Kim, et al.Scientific Reports|July 21, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing lossSo Young Kim, Bong Jik Kim, Doo Yi Oh, et al.Genes|March 6, 2021
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in HumansYeonmi Lee, Taeho Kim, Miju Lee, et al.BMC Medical Genomics|October 28, 2021
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in KoreaYena Lee, Yunha Choi, Go Hun Seo, et al.BMC Medical Genomics|July 4, 2021
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and managementJiwon Jung, Joo Hoon Lee, Young Seo Park, et al.Molecular Genetics & Genomic Medicine|December 24, 2022
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literatureYunha Choi, Jungmin Choi, Hyosang Do, et al.Journal of Human Genetics|August 28, 2019
Identification of extremely rare mitochondrial disorders by whole exome sequencingGo Hun Seo, Arum Oh, Eun Na Kim, et al.Pageof 11