Search filters

List of works by Alyson Guy

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

scientific article published on 10 December 2020

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

scientific article published on 11 July 2019

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

scientific article published on 12 January 2020

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

scientific article published on 29 November 2019

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

scientific article published on 18 November 2018

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

scientific article published on 6 January 2022

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

scientific article published on 03 August 2018

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

scientific article published on 28 November 2019

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

scientific article published on 06 June 2019

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

scientific article published on 19 June 2019

Paulina is supported by:

About Paulina

Help