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1 . Academic Journal
Functional Vision in Patients With Biallelic USH2A Variants
저자
by
Heon, Elise
;
Melia, Michele
;
Bocchino, Laura E.
;
Samarakoon, Lassana
;
Duncan, Jacque L.
, et al.
소스
In
American Journal of Ophthalmology
April 2024 260:200-211
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7 . Academic Journal
Shedding light on myopia by studying complete congenital stationary night blindness
저자
by
Zeitz, Christina
;
Roger, Jérome E.
;
Audo, Isabelle
;
Michiels, Christelle
;
Sánchez-Farías, Nuria
, et al.
소스
In
Progress in Retinal and Eye Research
March 2023 93
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7 . Academic Journal
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
저자
by
Reurink, Janine
;
Weisschuh, Nicole
;
Garanto, Alejandro
;
Dockery, Adrian
;
van den Born, L. Ingeborgh
, et al.
소스
In
Human Genetics and Genomics Advances
January 2023
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7 . Academic Journal
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
저자
by
Grudzinska Pechhacker, Monika K.
;
Yoon, Grace
;
Hazrati, Lili-Naz
;
Maynes, Jason
;
MacDonald, Heather
, et al.
소스
In
European Journal of Medical Genetics
November 2020 63(11)
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7 . Academic Journal
Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
저자
by
Garafalo, Alexandra V.
;
Cideciyan, Artur V.
;
Héon, Elise
;
Sheplock, Rebecca
;
Pearson, Alexander
, et al.
소스
In
Progress in Retinal and Eye Research
July 2020 77
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7 . Academic Journal
Screening of Chemical Libraries Using a Yeast Model of Retinal Disease
저자
by
Scott, Benjamin M.
;
Wybenga-Groot, Leanne E.
;
McGlade, C. Jane
;
Heon, Elise
;
Peisajovich, Sergio G.
, et al.
소스
In
SLAS Discovery
December 2019 24(10):969-977
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7 . Academic Journal
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin.
저자
by
Scott, Benjamin M.
;
Chen, Steven K.
;
Van Nynatten, Alexander
;
Liu, Jing
;
Schott, Ryan K.
, et al.
소스
Journal of Molecular Evolution
. Feb2024, Vol. 92 Issue 1, p61-71. 11p.
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7 . Academic Journal
No ocular motility complications after subtenon topotecan with fibrin sealant for retinoblastoma
저자
by
Yousef, Yacoub A.
;
Halliday, William
;
Chan, Helen S.L.
;
Héon, Elise
;
Gallie, Brenda L.
, et al.
소스
In
Canadian Journal of Ophthalmology/Journal canadien d'ophtalmologie
December 2013 48(6):524-528
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7 . Academic Journal
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
저자
by
Ballios, Brian G.
;
Mandola, Amarilla
;
Tayyib, Alaa
;
Tumber, Anupreet
;
Garkaby, Jenny
, et al.
소스
Eye: The Scientific Journal of The Royal College of Ophthalmologists
. 37(18):3734-3742
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7 . Academic Journal
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
저자
by
Drack, Arlene V.
;
Miraldi Utz, Virginia
;
Wang, Kai
;
Alcorn, Deborah M.
;
Brooks, Brian P.
, et al.
소스
In
Journal of AAPOS
August 2019 23(4):226-228
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