Results 221 to 230 of about 2,460,078 (269)

From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases. [PDF]

Diagnostics (Basel)
Parameswarappa DC, Kulkarni A, Sahoo NK, Padhy SK, Singh SR, Héon E, Chhablani J.   +6 more
europepmc   +1 more source

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing. [PDF]

Med Genet
Stöhr H, Weber BHF.
europepmc   +1 more source

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants. [PDF]

Br J Ophthalmol
Lähteenoja L, Ohtonen P, Falck A, Rahikkala EJ.   +3 more
europepmc   +1 more source

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Quinodoz M, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García GG, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Rivolta C.   +30 more
europepmc   +1 more source

Diagnostic Accuracy of AI Models in Detecting Different Inherited Retinal Diseases: A Systematic Review and Meta-Analysis. [PDF]

Transl Vis Sci Technol
Ashrafi S, Ahmadieh H, Bayat K, Baghban AA, Azadi A, Shahriari MH, Sabbaghi H.   +6 more
europepmc   +1 more source

Characterizing Inner Retinal Changes in End-Stage Inherited Retinal Diseases That Might be Suitable for Optogenetic Therapies. [PDF]

Transl Vis Sci Technol
Ng BWJ, Tan TE, Kostin V, MacLaren RE, Cehajic-Kapetanovic J.   +4 more
europepmc   +1 more source

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

Engineering single-AAV CRISPR-Cas13 RNA base editors for treatment of inherited retinal diseases

Kumar S, Chang H, Aubin D, Hsiao Y, Brunet A, Yang J, Huang L, Luu CD, Hewitt AW, Li F, Fry LE, Carvalho LS, Gonzalez-Cordero A, Liu G.   +13 more
europepmc   +1 more source

Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

JAMA Ophthalmol
Abuzaitoun RO, Branham KH, Lacy GD, Hufnagel RB, Kumar MM, Koskenvuo JW, Tuupanen S, Durham T, Zhao PY, Abalem MF, Andrews CA, Schlegel D, Khan NW, Fahim AT, Heckenlively JR, Musch DC, Jayasundera KT.   +16 more
europepmc   +1 more source

Retinal Oxygenation in Inherited Diseases of the Retina [PDF]

Genes, 2021
(1) Background: The aim of our study was to investigate the relationship between retinal metabolic alterations (retinal vessel oximetry, RO) and structural findings (retinal vessel diameter, central retinal thickness and retinal nerve fiber layer ...
Margarita G Todorova, Christophe Valmaggia, Cengiz Türksever   +2 more
exaly   +4 more sources