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Showing results (21-30 of 22) with videos related to

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Genome Biology|July 30, 2017
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutationNisha Patel, Arif O Khan, Maher Al-Saif, et al.
Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.
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Showing results (21-30 of 22) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 22 results.
Genome Biology|July 30, 2017
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutationNisha Patel, Arif O Khan, Maher Al-Saif, et al.
Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.
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