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Human Mutation|December 19, 2021
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencersLise L Holm, Thomas K Doktor, Michael B Hansen, et al.Human Mutation|July 20, 2019
A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer diseaseMohsen Ghanbari, Shashini T Munshi, Buyun Ma, et al.Human Mutation|August 10, 2019
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing lossAnna Morgan, Daniel C Koboldt, Elizabeth S Barrie, et al.Human Mutation|March 7, 2014
An evaluation of copy number variation detection tools from whole-exome sequencing dataRenjie Tan, Yadong Wang, Sarah E Kleinstein, et al.Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.Human Mutation|March 7, 2014
The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical careSarah Bowdin, Peter N Ray, Ronald D Cohn, et al.Human Mutation|March 11, 2014
An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?Elisabeth Gillis, Marlies Kempers, Simone Salemink, et al.Human Mutation|June 11, 2008
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an updateI Gijselinck, C Van Broeckhoven, M CrutsHuman Mutation|June 12, 2008
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patientsClelia Prattichizzo, Marina Macca, Valeria Novelli, et al.Human Mutation|June 12, 2008
Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutationsCaroline Kannengiesser, Bénédicte Gérard, Jamel El Benna, et al.Pageof 583