Detalhe da pesquisa
1.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
J Med Genet
; 61(2): 186-195, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734845
2.
Type 1 and type 2 torpedo maculopathy.
Graefes Arch Clin Exp Ophthalmol
; 262(6): 1805-1810, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38289371
3.
[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]. / Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom.
Klin Padiatr
; 2024 Mar 08.
Artigo
em Alemão
| MEDLINE | ID: mdl-38458231
4.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Hum Mol Genet
; 30(13): 1218-1229, 2021 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891002
5.
VOLUMETRIC ANALYSIS OF LAMELLAR MACULAR HOLE: An Optical Coherence Tomography Study.
Retina
; 43(2): 209-214, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695792
6.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Int J Mol Sci
; 24(3)2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769033
7.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Hum Mutat
; 42(6): 641-666, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847019
8.
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
Int J Mol Sci
; 22(15)2021 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360608
9.
Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy.
Klin Monbl Augenheilkd
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653459
10.
An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.
Klin Monbl Augenheilkd
; 241(3): 266-271, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508215
11.
Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil.
Transl Vis Sci Technol
; 13(4): 23, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630470
12.
Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants.
Mol Ther Nucleic Acids
; 35(1): 102113, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38274366
13.
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Sci Rep
; 14(1): 10551, 2024 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38719929
14.
Impact of A-Scan Rate on Image Quality and Acquisition Time in OCT.
Curr Eye Res
; 48(10): 973-979, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424383
15.
Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy.
Invest Ophthalmol Vis Sci
; 64(7): 33, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342031
16.
Multitask Learning for Activity Detection in Neovascular Age-Related Macular Degeneration.
Transl Vis Sci Technol
; 12(4): 12, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37052912
17.
Clinical validation of saliency maps for understanding deep neural networks in ophthalmology.
Med Image Anal
; 77: 102364, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101727
18.
Evaluation of Local Rod and Cone Function in Stargardt Disease.
Invest Ophthalmol Vis Sci
; 63(3): 6, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262734
19.
Comparison of Methods for Estimating Retinal Shape: Peripheral Refraction vs. Optical Coherence Tomography.
J Clin Med
; 10(2)2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33419003
20.
[Second opinion in retinal imaging]. / Zweitbeurteilung der retinalen Bildgebung.
Ophthalmologe
; 117(4): 326-330, 2020 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-32108252