M. Nijenhuis

发表

Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.

M. Jonkman, A. Pasmooij, M. Nijenhuis, 2012, The Journal of investigative dermatology.

Natural gene therapy in dystrophic epidermolysis bullosa.

R. Hofstra, M. Jonkman, A. Pasmooij, 2012, Archives of dermatology.

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

H. Scheffer, C. Buys, M. Jonkman, 2002, The Journal of investigative dermatology.

A PLEC Isoform Identified in Skin, Muscle, and Heart.

R. Sinke, M. Jonkman, A. Pasmooij, 2017, The Journal of investigative dermatology.

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

M. Jonkman, H. Pas, M. Nijenhuis, 2002, The Journal of investigative dermatology.

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

M. Jonkman, A. Pasmooij, G. Wiche, 2015, Human molecular genetics.

Mutation in exon 1 a of PLEC , leading to disruption of plectin isoform 1 a , causes autosomal-recessive skin-only epidermolysis bullosa simplex

M. Jonkman, A. Pasmooij, G. Wiche, 2015 .

Type XVII collagen (BP180) and LAD-1 are present as separate trimeric complexes.

M. Jonkman, J. van der Meer, H. Pas, 1999, The Journal of investigative dermatology.

Particle Bombardment of Ex Vivo Skin to Deliver DNA and Express Proteins.

B. Giepmans, K. Sjollema, M. Jonkman, 2017, Methods in molecular biology.

Temperature-dependent dissociation of trimeric BP180 and LAD-1 to their monomers

M. Jonkman, H. Pas, M. Nijenhuis, 1998 .

Comparison of Two Diagnostic Assays for Anti-Laminin 332 Mucous Membrane Pemphigoid

D. Zillikens, T. Hashimoto, E. Schmidt, 2021, Frontiers in Immunology.

Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion

J. Uitto, H. Scheffer, L. Pulkkinen, 1997, Cell.

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

R. Hofstra, H. Scheffer, A. V. van Essen, 2009, Journal of dermatological science.

Two major 5'-untranslated regions for type XVII collagen mRNA.

M. Jonkman, H. Pas, M. Nijenhuis, 2006, Journal of dermatological science.

Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

S. Llames, M. del Río, F. Larcher, 2014, The Journal of investigative dermatology.

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

M. Jonkman, A. Pasmooij, H. Pas, 2005, American journal of human genetics.