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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 SorrentinoHuman Mutation|April 29, 1998
An androgen receptor gene mutation (A645D) in a boy with a normal phenotypeA Nordenskjöld, S SöderhällHuman Mutation|January 1, 1997
Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiencyA Barrientos, J Casademont, D Genís, et al.Human Mutation|May 28, 2014
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intoleranceValeria Carossa, Anna Ghelli, Concetta Valentina Tropeano, et al.Pageof 578