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1.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37454282
2.
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Int J Mol Sci
; 21(5)2020 Feb 26.
Article
in English
| MEDLINE | ID: mdl-32111077
3.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Hum Mutat
; 40(10): 1749-1759, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31212395
4.
TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.
J Neurosci
; 29(21): 6809-18, 2009 May 27.
Article
in English
| MEDLINE | ID: mdl-19474308
5.
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Genes (Basel)
; 8(7)2017 06 23.
Article
in English
| MEDLINE | ID: mdl-28644393
6.
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Invest Ophthalmol Vis Sci
; 58(1): 394-403, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-28118664
7.
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Neuromolecular Med
; 17(2): 111-20, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25680934
8.
The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.
BMC Genomics
; 5(1): 50, 2004 Jul 29.
Article
in English
| MEDLINE | ID: mdl-15283859
9.
Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.
Mol Vis
; 8: 67-71, 2002 Mar 19.
Article
in English
| MEDLINE | ID: mdl-11951088
10.
Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7).
Neurosci Lett
; 326(1): 37-40, 2002 Jun 21.
Article
in English
| MEDLINE | ID: mdl-12052533
11.
Meta-analysis of genome scans of age-related macular degeneration.
Hum Mol Genet
; 14(15): 2257-64, 2005 Aug 01.
Article
in English
| MEDLINE | ID: mdl-15987700
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