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Browse "Graduate School of Medical Science & Engineering(의과학대학원)" by Author Gabriel, Stacey

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1
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; et al, NATURE GENETICS, v.42, no.7, pp.619 - 625, 2010-07

2
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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