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List of works by Anna M Rose

A 112 kb Deletion in Chromosome 19q13.42 Leads to Retinitis Pigmentosa ⬇️

scientific article published on August 22, 2011

A Rare Case of Orbital Haemangiopericytoma Arising in Childhood ⬇️

scientific article published on July 29, 2013

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.

scientific article

Bilateral lens subluxation in a patient with suspected Loeys-Dietz syndrome

scientific article published on 01 January 2011

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

scientific article

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

scientific article

Epistasis and immunity: the role of genetic interactions in autoimmune diseases

scientific article

Epistasis: the key to understanding immunological disease?

scientific article published on 01 August 2011

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

scientific article

Gene of the month: PRPF31.

scientific article published on 29 June 2017

Late presentation to hospital services necessitates greater community-based care for malnourished children

scientific article published on 10 November 2014

Primary Orbital Melanoma: Presentation, Treatment, and Long-term Outcomes for 13 Patients

scientific article published on 18 December 2017

Staphylococcus lugdunensis septic arthritis and epidural abscess in a patient with rheumatoid arthritis receiving anti-tumour necrosis factor therapy

scientific article published on 8 September 2014

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

scientific article

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa

scientific article published on 8 February 2016

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