Maurice A M van Steensel

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

Neha Tiwari, N. Tiwari, N. Dahl, 2010, American journal of human genetics.

A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.

P. Steijlen, P. van Neer, M. V. van Steensel, 2008, The American journal of pathology.

Birt-Hogg-Dubé syndrome: diagnosis and management.

S. Richard, M. Nordenskjöld, E. Maher, 2009, The Lancet. Oncology.