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Browse "College of Life Science and Bioengineering(생명과학기술대학)" by Author Silhavy, Jennifer L.

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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
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Lee, Jeong Ho; My Huynh; Silhavy, Jennifer L.; Kim, Sangwoo; Dixon-Salazar, Tracy; Heiberg, Andrew; Scott, Eric; et al, NATURE GENETICS, v.44, no.8, pp.941 - 941, 2012-08

3
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Lancaster, Madeline A.; Gopal, Dipika J.; Kim, Joon; Saleem, Sahar N.; Silhavy, Jennifer L.; Louie, Carrie M.; Thacker, Bryan E.; et al, NATURE MEDICINE, v.17, no.6, pp.726 - 731, 2011-06

4
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

5
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

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