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1 . Academic Journal
CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States
저자
by
Lim, Sing-Hui
;
Tran-Viet, Khanh-Nhat
;
Yanovitch, Tammy L.
;
Freedman, Sharon F.
;
Klemm, Thomas
, et al.
소스
In
American Journal of Ophthalmology
March 2013 155(3):508-517
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7 . Academic Journal
Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia.
저자
by
Lim, Sing-Hui
;
Germain, Elizabeth St.
;
Tran-Viet, Khanh-Nhat
;
Staffieri, Sandra
;
Marino, Meghan
, et al.
소스
Ophthalmic Genetics
. Mar2014, Vol. 35 Issue 1, p1-6. 6p.
Web of Science
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7 . Academic Journal
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
저자
by
Soler, Vincent José
;
Tran-Viet, Khanh-Nhat
;
Galiacy, Stéphane D
;
Limviphuvadh, Vachiranee
;
Klemm, Thomas Patrick
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2013 50(4):246-254
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7 . Academic Journal
Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia.
저자
by
Tran-Viet, Khanh-Nhat
;
Powell, Caldwell
;
Barathi, Veluchamy?A.
;
Klemm, Thomas
;
Maurer-Stroh, Sebastian
, et al.
소스
American Journal of Human Genetics
. May2013, Vol. 92 Issue 5, p820-826. 7p.
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7 . Academic Journal
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
저자
by
Macgregor, Stuart
;
Hewitt, Alex W.
;
Hysi, Pirro G.
;
Ruddle, Jonathan B.
;
Medland, Sarah E.
, et al.
소스
Human Molecular Genetics
. Jul 01, 2010 19(13):2716-2724
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7 . Academic Journal
Mutational Hot Spot Potential of a Novel Base Pair Mutation of the CSPG2 Gene in a Family With Wagner Syndrome.
저자
by
Ronan, Shawn M.
;
Tran-Viet, Khanh-Nhat
;
Burner, Erica L.
;
Metlapally, Ravikanth
;
Toth, Cynthia A.
, et al.
소스
Archives of Ophthalmology; Nov2009, Vol. 127 Issue 11, p1511-1519, 9p
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7 . Academic Journal
Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31.
저자
by
Züchner, Stephan
;
Wang, Gaofeng
;
Tran-Viet, Khanh-Nhat
;
Nance, Martha A.
;
Gaskell, Perry C.
, et al.
소스
American Journal of Human Genetics
. Aug2006, Vol. 79 Issue 2, p365-369. 5p.
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7 . Academic Journal
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
저자
by
Beetz, Christian
;
Schüle, Rebecca
;
Deconinck, Tine
;
Tran-Viet, Khanh-Nhat
;
Zhu, Hui
, et al.
소스
Brain
. Apr 01, 2008 131(4):1078-1086
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7 . Academic Journal
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
저자
by
Souma, Tomokazu
;
Tompson, Stuart W.
;
Thomson, Benjamin R.
;
Siggs, Owen M.
;
Kizhatil, Krishnakumar
, et al.
소스
JOURNAL OF CLINICAL INVESTIGATION
; JUL 2016, 126 7, p2575-p2587, 13p.
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7 .
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia
저자
by
White, Tristan
;
Lu, Tianyi
;
Metlapally, Ravikanth
;
Katowitz, James
;
Kherani, Femida
, et al.
소스
Molecular Vision
Open Access (OpenAIRE)
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