Results 21 to 30 of about 904 (68)

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies. [PDF]

open access: yesAnn Clin Transl Neurol, 2023
Nallamilli BRR   +8 more
europepmc   +1 more source

Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9). [PDF]

open access: yesDoc Ophthalmol, 2023
Hagedorn JL   +6 more
europepmc   +1 more source

Production of Modified Nucleosides in a Continuous Enzyme Membrane Reactor. [PDF]

open access: yesInt J Mol Sci, 2023
Thiele I   +8 more
europepmc   +1 more source

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review. [PDF]

open access: yesArq Neuropsiquiatr, 2023
Lorenzoni PJ   +8 more
europepmc   +1 more source

CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy. [PDF]

open access: yesCells, 2023
Geoffroy M   +8 more
europepmc   +1 more source

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer. [PDF]

open access: yesSci Rep, 2022
Jung K   +7 more
europepmc   +1 more source

A comprehensive analysis of the role of QPRT in breast cancer. [PDF]

open access: yesSci Rep, 2023
Yan Y   +7 more
europepmc   +1 more source

Magnetic Multi-Enzymatic System for Cladribine Manufacturing. [PDF]

open access: yesInt J Mol Sci, 2022
Cruz G   +5 more
europepmc   +1 more source

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