S. Turczynski

Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation

A. Hovnanian, D. Murrell, M. Titeux, 2016, The British journal of dermatology.

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.

A. Hovnanian, M. Titeux, L. Tonasso, 2016, The Journal of investigative dermatology.

Antisense-Mediated Splice Modulation to Reframe Transcripts.

A. Hovnanian, M. Titeux, S. Turczynski, 2018, Methods in molecular biology.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis

M. Gut, I. Gut, J. Melki, 2017, Human molecular genetics.

Antisense-mediated exon skipping to reframe transcripts.

A. Hovnanian, M. Titeux, S. Turczynski, 2012, Methods in molecular biology.