Results 81 to 90 of about 5,638 (129)

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics. [PDF]

open access: yesInt J Mol Sci
Teker B   +14 more
europepmc   +1 more source

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy. [PDF]

open access: yesEur J Neurol
Breuillard D   +11 more
europepmc   +1 more source

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice. [PDF]

open access: yesJCI Insight
Takahashi K   +13 more
europepmc   +1 more source

Role of IPF genetic risk loci in post-COVID-19 lung abnormalities: a cohort study. [PDF]

open access: yesBMJ Open Respir Res
Marinescu DC   +9 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy