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Nadav Ahituv

Human mutation

Showing results (1-10 of 6) with videos related to

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Human Mutation|November 16, 2011
Location, location, cis-mutationNadav Ahituv
Human Mutation|May 28, 2019
Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell typesAnat Kreimer, Zhongxia Yan, Nadav Ahituv, et al.
Human Mutation|March 11, 2018
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingersRivka Sukenik Halevy, Huan-Chieh Chien, Bo Heinz, et al.
Human Mutation|April 30, 2014
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous formJulia E VanderMeer, Reymundo Lozano, Miao Sun, et al.
Human Mutation|April 13, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumbTobias Laurell, Julia E Vandermeer, Aaron M Wenger, et al.
Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Human Mutation|November 16, 2011
Location, location, cis-mutationNadav Ahituv
Human Mutation|May 28, 2019
Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell typesAnat Kreimer, Zhongxia Yan, Nadav Ahituv, et al.
Human Mutation|March 11, 2018
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingersRivka Sukenik Halevy, Huan-Chieh Chien, Bo Heinz, et al.
Human Mutation|April 30, 2014
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous formJulia E VanderMeer, Reymundo Lozano, Miao Sun, et al.
Human Mutation|April 13, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumbTobias Laurell, Julia E Vandermeer, Aaron M Wenger, et al.
Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.
Pageof 1