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Proceedings of the National Academy of Sciences of the United States of America|March 18, 2009
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10Ute I Scholl, Murim Choi, Tiewen Liu, et al.
Orphanet Journal of Rare Diseases|August 2, 2022
Fatal systemic disorder caused by biallelic variants in FARSASoo Yeon Kim, Saebom Ko, Hyunook Kang, et al.
Journal of Hepatology|July 13, 2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiologySílvia Vilarinho, Murim Choi, Dhanpat Jain, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 6, 2026
Functional dissection of <i>SPOP</i> at the amino acid level reveals a comprehensive functional landscape of variants during tumorigenesisSeong Kyun Park, Jeongha Lee, Seon Ju Park, et al.
Data in Brief|October 5, 2016
Data of methylome and transcriptome derived from human dilated cardiomyopathyBong-Seok Jo, In-Uk Koh, Jae-Bum Bae, et al.
Journal of Neuro-Oncology|February 10, 2018
Genomic analysis of synchronous intracranial meningiomas with different histological gradesTamrin Chowdhury, Yongjin Yoo, Youngbeom Seo, et al.
Genome Biology|January 28, 2026
SCITO-seq2: ultra-high-throughput single-cell transcriptome and epitope sequencingSu-Hyeon Lee, Bo-Yeong Jin, Cho-Rong Lee, et al.
Human Molecular Genetics|December 6, 2013
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfectaShih-Kai Wang, Murim Choi, Amelia S Richardson, et al.
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