Results 131 to 140 of about 5,980 (178)

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies. [PDF]

Sci Rep
Kiel C, Biasella F, Stöhr H, Rating P, Spital G, Kellner U, Hufendiek K, Huchzermeyer C, Jaegle H, Ruether K, Weber BHF.   +10 more
europepmc   +1 more source

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach. [PDF]

Mol Genet Genomic Med
Fabian-Morales GE, Ordoñez-Labastida V, Garcia-Martínez F, Montes-Almanza L, Zenteno JC.   +4 more
europepmc   +1 more source

Voretigene neparvovec for inherited retinal dystrophy

, 2021
openaire   +1 more source

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. [PDF]

BMC Ophthalmol
Munir A, Afsar S, Rehman AU.
europepmc   +1 more source

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes. [PDF]

Mol Syndromol
Basdemirci M, Kocak Eker H.
europepmc   +1 more source

Erratum in: Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. [PDF]

Invest Ophthalmol Vis Sci
europepmc   +1 more source

CRISPRa-mediated activation of genes associated with inherited retinal dystrophies in acutely isolated human cells for diagnostic purposes

Weber VJ, Reschigna A, Gerhardt M, Hinrichsmeyer KS, Otify DY, Heigl T, Blaser F, Meneau I, Biel M, Michalakis S, Becirovic E.   +10 more
europepmc   +1 more source

Voretigene neparvovec for inherited retinal dystrophy.

Australian prescriber
openaire   +1 more source