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Human Mutation|August 20, 2016
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant DiseaseBrenden Chen, Constanza Solis-Villa, Jörg Hakenberg, et al.Human Mutation|May 13, 2015
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I ProcollagenJennifer Schleit, Samuel S Bailey, Thao Tran, et al.Human Mutation|May 15, 2015
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding RegionsStefan H Lelieveld, Malte Spielmann, Stefan Mundlos, et al.Human Mutation|May 26, 1998
Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during agingC Zhang, V W Liu, C L Addessi, et al.Human Mutation|May 29, 1998
Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutationsP M Pollock, N Spurr, T Bishop, et al.Human Mutation|May 29, 1998
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9J Young, L A Simms, J Tarish, et al.Human Mutation|June 20, 1998
Pooled analysis of p53 mutations in hematological malignanciesM Prokocimer, R Unger, H S Rennert, et al.Human Mutation|February 16, 2026
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal CancerHui Zhang, Jingjing Shao, Tianye Zhao, et al.Human Mutation|August 27, 2025
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers SyndromeTahir N Khan, Chunyu Liu, Kai Lee Yap, et al.Human Mutation|April 29, 1998
In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: potential for clinical applicationR L Blakley, B P SorrentinoPageof 575