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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus Lee, Jeong Ho; Silhavy, Jennifer L.; Lee, Ji Eun; Al-Gazali, Lihadh; Thomas, Sophie; Davis, Erica E.; Bielas, Stephanie L.; et al, SCIENCE, v.335, no.6071, pp.966 - 969, 2012-02 |
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome Martinez, Fernando Jose; Lee, Jeong Ho; Lee, Ji Eun; Blanco, Sandra; Nickerson, Elizabeth; Gabriel, Stacey; Frye, Michaela; et al, JOURNAL OF MEDICAL GENETICS, v.49, no.6, pp.380 - 385, 2012-06 |
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