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Human Mutation|July 12, 2022
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variantsJotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, et al.
Human Mutation|August 26, 1998
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategyT Sasaki, H Tian, Y Kukita, et al.
Human Mutation|March 1, 2000
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. OnlineJ T Mendell, S G Panicker, C Y Tsao, et al.
Human Mutation|March 1, 2000
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. OnlineJ Chinsky, M Appel, S Almashanu, et al.
Human Mutation|July 20, 2001
A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among malesC B Santos, M A Costa Lima, M M Pimentel
Human Mutation|September 27, 2002
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLCMaryam M Matin, Alessandra Baumer, David P Hornby
Human Mutation|June 15, 2026
Molecular Subtyping Based on EGFR Mutation-Associated Genes and the Prognostic Role of TRAF2 in Lung AdenocarcinomaBo Gao, Zihan Dong, Taotao Yan, et al.
Human Mutation|April 11, 2001
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)M D Cappellini, F Martinez di Montemuros, D Tavazzi, et al.
Human Mutation|October 23, 2001
Variability of the CD36 gene in West AfricaA Gelhaus, A Scheding, E Browne, et al.
Human Mutation|July 28, 2026
Integrative Mendelian Randomization and Single-Cell Pseudotime Analysis Reveal DKK3 as a PI3K-AKT-Modulated Driver of Esophageal Squamous Cell CarcinomaZhanghao Huang, Tiegang Cao, You Lang Zhou, et al.
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