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1 . Academic Journal
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
저자
by
Hensman, Jonathan
;
Hahn, Leo C.
;
van Schooneveld, Mary J.
;
Diederen, Roselie M.H.
;
ten Brink, Jacoline B.
, et al.
소스
In
Ophthalmology Retina
June 2024 8(6):600-606
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
저자
by
Han, Ji Hoon
;
Rodenburg, Kim
;
Hayman, Tamar
;
Calzetti, Giacomo
;
Kaminska, Karolina
, et al.
소스
In
Genetics in Medicine
February 2024
Full Text (ScienceDirect)
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7 . Academic Journal
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
저자
by
de Bruijn, Suzanne E.
;
Rodenburg, Kim
;
Corominas, Jordi
;
Ben-Yosef, Tamar
;
Reurink, Janine
, et al.
소스
In
Genetics in Medicine
March 2023 25(3)
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Full Text (ScienceDirect O/A)
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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
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
저자
by
Cornelis, Stéphanie S.
;
IntHout, Joanna
;
Runhart, Esmee H.
;
Grunewald, Olivier
;
Lin, Siying
, et al.
소스
JAMA Ophthalmology; May2024, Vol. 142 Issue 5, p463-471, 9p
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7 . Academic Journal
Straylight as an Indicator for Cataract Extraction in Patients with Retinal Dystrophy
저자
by
van Bree, Maartje C.J.
;
Pierrache, Laurence
;
Zijlmans, Bart L.M.
;
Reus, Nicolaas J.
;
van den Born, L. Ingeborgh
, et al.
소스
In
Ophthalmology Retina
November-December 2017 1(6):531-544
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7 . Academic Journal
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study.
저자
by
Karuntu, Jessica S.
;
Nguyen, Xuan‐Thanh‐An
;
Talib, Mays
;
van Schooneveld, Mary J.
;
Wijnholds, Jan
, et al.
소스
Acta Ophthalmologica (1755375X)
. Jun2024, Vol. 102 Issue 4, p469-477. 9p.
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7 . Academic Journal
Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
저자
by
Thiadens, Alberta A.H.J.
;
Roosing, Susanne
;
Collin, Rob W.J.
;
van Moll-Ramirez, Norka
;
van Lith-Verhoeven, Janneke J.C.
, et al.
소스
In
Ophthalmology
2010 117(4):825-830
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7 . Academic Journal
Current Management of Patients with
RPE65
Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey.
저자
by
Lorenz, Birgit
;
Tavares, Joana
;
van den Born, L. Ingeborgh
;
Marques, João Pedro
;
Pilotto, Elisabetta
, et al.
소스
Ophthalmic Research
. Mar2023, Vol. 66 Issue 1, p727-748. 22p. 5 Illustrations, 13 Charts.
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7 . Academic Journal
Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia
저자
by
Thiadens, Alberta A.H.J.
;
Slingerland, Niki W.R.
;
Roosing, Susanne
;
van Schooneveld, Mary J.
;
van Lith-Verhoeven, Janneke J.C.
, et al.
소스
In
Ophthalmology
2009 116(10):1984-1989
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