Peter C. van den Akker

Punctate Palmoplantar Epidermal Differentiation Disorder Caused by AAGAB Variants: Large-Scale Genomic Data Suggest Under-recognition

Sofie F Jørgensen, Sigrún Alba Jóhannesdóttir Schmidt, Peter C. van den Akker, Stine Bjørn Gram

dk, nl (code pays fourni par la source)

Meta-analysis of adverse events in clinical studies with antisense oligonucleotide therapies

Cisse Vermeer, Rindert R Venema, Erwin Birnie, Marieke C. Bolling et autres

nl (code pays fourni par la source)

The Economic Burden of Epidermolysis Bullosa: A Scoping Review

L Agnes Grutters, Fieke Teertstra, Sjoukje van der Werf, Antoinette D.I. van Asselt et autres

nl (code pays fourni par la source)

Core outcome domain sets for clinical trials in epidermolysis bullosa — a COSEB protocol to achieve consensus on “what” to measure

Eva W H Korte, Peter C. van den Akker, Dimitra Kiritsi, Jan Kottner et autres

nl, de, gr, at, ca (code pays fourni par la source)

Core outcome domain sets for clinical trials in epidermolysis bullosa — a COSEB protocol to achieve consensus on “what” to measure

on behalf of the ArtDECO consortium, Eva W.H. Korte, Peter C. van den Akker, Dimitra Kiritsi et autres

SOX2 Is a Potential Diagnostic Biomarker and Anticancer Target in Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa: A Case Series Study

Clara Harrs, Maria C. Bolling, Peter C. van den Akker, Bart Koopman et autres

nl (code pays fourni par la source)

Novel ATP2C1 genetic variants in a Dutch cohort of patients with Hailey-Hailey disease

Marie-Eline P H Debeuf, Valerie L. R. M. Verstraeten, Peter C. van den Akker, R.G.L. Nellen et autres

nl (code pays fourni par la source)

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces

Laura A. Grutters, Rosalie Baardman, Jeroen Bremer, Duco Kramer et autres

nl (code pays fourni par la source)

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa

Eddy N. de Boer, L Agnes Grutters, Rosalie Baardman, Daniëlle Schoonhoven et autres

nl (code pays fourni par la source)

Identifying high‐risk melanoma patients: The importance of acquiring a detailed family history

Mostafa El Moumni, Barbara L. van Leeuwen, Peter C. van den Akker, Emöke Rácz

nl (code pays fourni par la source)

Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients

Eva W H Korte, Rosalie Baardman, Grieteke Pool, Josephina C Duipmans et autres

nl (code pays fourni par la source)

Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa

Eva W H Korte, Anna M.G. Pasmooij, Maria C. Bolling, Sineád Hickey et autres

nl, de, gr, at (code pays fourni par la source)