Results 141 to 150 of about 370,744 (189)

Characterising microstructural retinal changes in children with inherited retinal dystrophies - a retrospective observational cross-sectional study. [PDF]

Graefes Arch Clin Exp Ophthalmol
Holland J, Rodda B, Ruddle JB, Piano ME, Higginbotham EJ, Ayton LN, Jolly JK.   +6 more
europepmc   +1 more source

Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes. [PDF]

Diagnostics (Basel), 2023
Samelska K, Szaflik JP, Guszkowska M, Kurowska AK, Zaleska-Żmijewska A.   +4 more
europepmc   +1 more source

Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives. [PDF]

Genes (Basel)
Nguyen L, Vallejos CA, Mill P, Megaw R.
europepmc   +1 more source

The Specific Pathogenicity Pattern of the Different <i>CRB1</i> Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies. [PDF]

Int J Mol Sci
Siles L, Ruiz-Nogales S, Méndez-Vendrell P, Burés-Jelstrup A, Navarro R, Pomares E.   +5 more
europepmc   +1 more source

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics. [PDF]

J Clin Med
Nebbioso M, Artico M, Gharbiya M, Mannocci A, Limoli PG, Iannetta D, Donato L.   +6 more
europepmc   +1 more source

Novel Therapies for Inherited Retinal Dystrophies. [PDF]

J Clin Med
Kay CN.
europepmc   +1 more source

CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes. [PDF]

JCI Insight
Weber VJ, Reschigna A, Gerhardt MJ, Heigl T, Hinrichsmeyer KS, den Engel SV, Otify DY, Gavrilov Z, Blaser F, Meneau I, Betz C, Bolz HJ, Biel M, Michalakis S, Becirovic E.   +14 more
europepmc   +1 more source

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach. [PDF]

Eye (Lond)
Esteve-Garcia A, Padró-Miquel A, Català-Mora J, Sau C, Yubero D, Corradi Z, Cremers FPM, Barberán-Martínez P, Millán JM, García-García G, Ismael I, Arias L, Cobos E, Aguilera C.   +13 more
europepmc   +1 more source

Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches. [PDF]

EBioMedicine
Gómez-Escribano AP, García-García G, Pérez-Santamarina E, Aller-Mañas E, Vázquez-Manrique RP, Millán-Salvador JM.   +5 more
europepmc   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort. [PDF]

Clin Genet
Demir Ş, Ateş EA, Sevik O, Sözer B, Köse T, Şahin Ö, Arman A, Geçkinli BB.   +7 more
europepmc   +1 more source