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Scientific Reports|January 10, 2026
Transcriptional stratification of necrotizing enterocolitis identifies distinct disease subtypesJean Lee, So Hyun Nam, Dayoung Ko, et al.
Yonsei Medical Journal|November 27, 2019
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical FeaturesHyuna Kim, Jin Sook Lee, Youngha Lee, et al.
Journal of Child Neurology|November 1, 2016
Wiedemann-Steiner Syndrome With 2 Novel KMT2A MutationsJung Min Ko, Jae So Cho, Yongjin Yoo, et al.
Journal of Human Genetics|January 22, 2016
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestationJung Min Ko, Soyoon Jung, Jieun Seo, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 2, 2011
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterningKhalid A Fakhro, Murim Choi, Stephanie M Ware, et al.
Pediatric Research|November 7, 2013
Gene-environment interactions in severe intraventricular hemorrhage of preterm neonatesLaura R Ment, Ulrika Adén, Aiping Lin, et al.
Journal of Human Genetics|January 23, 2015
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutationsJieun Seo, In-Ho Choi, Je Sang Lee, et al.
Human Genome Variation|May 8, 2021
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndromeJong Seop Kim, Hyoungseok Jeon, Hyeran Lee, et al.
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