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Molecular Medicine (Cambridge, Mass.)|March 3, 2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesYoo-Mi Kim, Ja Hye Kim, Jin Choi, et al.Molecular Genetics and Metabolism|December 19, 2012
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutationsBeom Hee Lee, Yoo-Mi Kim, Sun Hee Heo, et al.Medicine|May 9, 2020
Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutationsJiwon Jung, Go Hun Seo, Yoo-Mi Kim, et al.Journal of Human Genetics|June 28, 2013
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndromeBeom Hee Lee, Gu-Hwan Kim, Tae Jeong Oh, et al.Journal of Genetics and Genomics = Yi Chuan Xue Bao|October 5, 2024
RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish modelJi-Won Park, Tae-Ik Choi, Tae-Yoon Kim, 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.Medicine|July 21, 2017
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotypeJin-Ho Choi, Beom Hee Lee, Sun Hee Heo, 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.Diabetes & Metabolism Journal|March 5, 2026
Familial Occurrence of Type 1 Diabetes Mellitus in Korean Children and Adolescents: A Multicenter StudyHae Sang Lee, Hwa Young Kim, Mi Yang, et al.Pageof 6