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Browse "Graduate School of Medical Science & Engineering(의과학대학원)" by Author Hildebrandt, Friedhelm

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Showing results 1 to 4 of 4

1
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Lee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; et al, NATURE GENETICS, v.44, no.2, pp.193 - 199, 2012-02

2
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

3
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; et al, ELIFE, v.4, 2015-05

4
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Failler, Marion; Gee, Heon Yung; Krug, Pauline; Joo, Kwangsic; Halbritter, Jan; Belkacem, Lilya; Filhol, Emilie; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.94, no.6, pp.905 - 914, 2014-06

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