Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

por van der Velden, Jaap J. A. J., van Geel, Michel, Engelhart, Jans J., Jonkman, Marcel F., Steijlen, Peter M.
Publicado 2019

Reorganising dermatology care: predictors of the substitution of secondary care with primary care

por van den Bogaart, Esther H. A., Kroese, Mariëlle E. A. L., Spreeuwenberg, Marieke D., Martens, Herm, Steijlen, Peter M., Ruwaard, Dirk
Publicado 2020

STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity

por Nagtzaam, Ivo F., van Leersum, Frank S., Kouwenberg, Laurie C.M., Blok, Marinus J., Vreeburg, Maaike, Steijlen, Peter M., Gostyński, Antoni, van Geel, Michel
Publicado 2022

New mutations and an updated database for the patched‐1 (PTCH1) gene

por Reinders, Marie G., van Hout, Antonius F., Cosgun, Betûl, Paulussen, Aimée D., Leter, Edward M., Steijlen, Peter M., Mosterd, Klara, van Geel, Michel, Gille, Johan J.
Publicado 2018

Vismodegib-resistant basal cell carcinomas in basal cell nevus syndrome: Clinical approach and genetic analysis

por Sinx, Kelly A.E., Roemen, Guido M.J.M., van Zutven, Virrie, Janssen, Renske, Speel, Ernst-Jan M., Steijlen, Peter M., van Geel, Michel, Mosterd, Klara
Publicado 2018

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

por Staps, Pippa, van Gaalen, Judith, van Domburg, Peter., Steijlen, Peter M., Ferdinandusse, Sacha, den Heijer, Tom, Seyger, Marieke M. B., Theelen, Thomas, Willemsen, Michèl A. A. P.
Publicado 2020

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

por Easton, Jennifer A, Donnelly, Steven, Kamps, Miriam A F, Steijlen, Peter M, Martin, Patricia E, Tadini, Gianluca, Janssens, René, Happle, Rudolf, van Geel, Michel, van Steensel, Maurice A M
Publicado 2012

Reorganization of the nuclear lamina and cytoskeleton in adipogenesis

por Verstraeten, Valerie L. R. M., Renes, Johan, Ramaekers, Frans C. S., Kamps, Miriam, Kuijpers, Helma J., Verheyen, Fons, Wabitsch, Martin, Steijlen, Peter M., van Steensel, Maurice A. M., Broers, Jos L. V.
Publicado 2011

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

por Verstraeten, Valerie LRM, Caputo, Sandrine, Van Steensel, Maurice AM, Duband-Goulet, Isabelle, Zinn-Justin, Sophie, Kamps, Miriam, Kuijpers, Helma JH, Östlund, Cecilia, Worman, Howard J, Briedé, Jacob J, Le Dour, Caroline, Marcelis, Carlo LM, Van Geel, Michel, Steijlen, Peter M, Van Den Wijngaard, Arthur, Ramaekers, Frans CS, Broers, Jos LV
Publicado 2009