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List of works by Nicholas Owen

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

article

BORIS/CTCFL is an RNA-binding protein that associates with polysomes.

scientific article

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

scientific article published in April 1995

Design principles for bifunctional targeted oligonucleotide enhancers of splicing ⬇️

scientific article published on May 20, 2011

From Transcriptomics to Treatment in Inherited Optic Neuropathies

scientific article published in 2021

Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs.

scientific article

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

scientific article

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

scientific article published on 06 October 2020

Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis

scientific article published on 01 April 1995

Testicular somatic cell-like cells derived from embryonic stem cells induce differentiation of epiblasts into germ cells

scientific article published on 28 June 2021

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