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1 . Academic Journal
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
저자
by
Koenekoop, Robert K
;
Sui, Ruifang
;
Sallum, Juliana
;
van den Born, L Ingeborgh
;
Ajlan, Radwan
, et al.
소스
In
The Lancet
25-31 October 2014 384(9953):1513-1520
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7 . Academic Journal
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
저자
by
Wen, Shu
;
Wang, Meng
;
Qian, Xinye
;
Li, Yumei
;
Wang, Keqing
, et al.
소스
Human Molecular Genetics; Jun2023, Vol. 32 Issue 12, p2005-2015, 11p
Full Text (OUP)
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7 . Academic Journal
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
저자
by
Ajmal, Muhammad
;
Khan, Muhammad Imran
;
Neveling, Kornelia
;
Khan, Yar Muhammad
;
Azam, Maleeha
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2014 51(7):444-448
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7 . Academic Journal
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
저자
by
Khateb, Samer
;
Zelinger, Lina
;
Mizrahi-Meissonnier, Liliana
;
Ayuso, Carmen
;
Koenekoop, Robert K
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2014 51(7):460-469
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7 . Academic Journal
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
저자
by
Kohl, Susanne
;
Zobor, Ditta
;
Weisschuh, Nicole
;
Staller, Jennifer
;
Menendez, Irene Gonzalez
, et al.
소스
Nature Genetics
. Jul2015, Vol. 47 Issue 7, p757-765. 9p. 4 Color Photographs, 2 Black and White Photographs, 1 Graph.
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7 . Academic Journal
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
저자
by
Wang, Xia
;
Wang, Hui
;
Sun, Vincent
;
Tuan, Han-Fang
;
Keser, Vafa
, et al.
소스
Journal of Medical Genetics
. Oct 01, 2013 50(10):674-688
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7 . Academic Journal
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
저자
by
Majewski, Jacek
;
Wang, Zibo
;
Lopez, Irma
;
Al Humaid, Sulaiman
;
Ren, Huanan
, et al.
소스
Journal of Medical Genetics
. Sep 01, 2011 48(9):593-596
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7 .
Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies
저자
by
Barnes, Claire S
;
Schuchard, Ronald A
;
Birch, David G
;
Dagnelie, Gislin
;
Wood, Leah
, et al.
소스
Translational vision science & technology, vol 8, iss 3
Open Access (OpenAIRE)
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7 . Academic Journal
Genetics, phenotypes, mechanisms and treatments for Leber congenital amaurosis: a paradigm shift
저자
by
Koenekoop, Robert K
;
Lopez, Irma
;
Allikmets, Rando
;
Cremers, Frans PM
;
den Hollander, Anneke I
.
소스
Expert Review of Ophthalmology
. Aug 01, 2008 3(4):397-415
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7 . Academic Journal
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
저자
by
Koenekoop, Robert K
;
Wang, Hui
;
Majewski, Jacek
;
Wang, Xia
;
Lopez, Irma
, et al.
소스
Nature Genetics
. Sep2012, Vol. 44 Issue 9, p1035-1039. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.
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