Results 121 to 130 of about 6,513 (220)

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report. [PDF]

open access: yesDiagnostics (Basel), 2021
Cenni C   +11 more
europepmc   +1 more source

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome. [PDF]

open access: yesMol Ther Nucleic Acids
García-Bohórquez B   +14 more
europepmc   +1 more source

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss. [PDF]

open access: yesEur J Hum Genet, 2022
Vaché C   +8 more
europepmc   +1 more source

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa. [PDF]

open access: yesEur J Hum Genet
Vaché C   +14 more
europepmc   +1 more source

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