Cutaneous mosaicism: right before our eyes

Por Frank, Jorge, Happle, Rudolf
Publicado em 2007

Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

Por Lang, Estefanía, Schäfer, Martin, Schwender, Holger, Neumann, Norbert J., Frank, Jorge
Publicado no JIMD Rep (2015)

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Por Poblete-Gutiérrez, Pamela, Wiederholt, Tonio, König, Arne, Jugert, Frank K., Marquardt, Yvonne, Rübben, Albert, Merk, Hans F., Happle, Rudolf, Frank, Jorge
Publicado em 2004

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel

Por Lecluse, Anne L. Y., Kuck-Koot, Veronica C. M., van Weelden, Huib, Sigurdsson, Vigfus, Russel, Ingrid M., Frank, Jorge, Pasmans, Suzanne G. M. A.
Publicado em 2007

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Por Ralser, Damian J., Basmanav, F. Buket Ü., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michélle, Pulimood, Susanne A., Altmüller, Janine, Nürnberg, Peter, Lacombe, Didier, Hillen, Uwe, Wenzel, Jörg, Frank, Jorge, Odermatt, Benjamin, Betz, Regina C.
Publicado no J Clin Invest (2017)

Afamelanotide for Erythropoietic Protoporphyria

Por Langendonk, Janneke G., Balwani, Manisha, Anderson, Karl E., Bonkovsky, Herbert L., Anstey, Alexander V., Bissell, D. Montgomery, Bloomer, Joseph, Edwards, Chris, Neumann, Norbert J., Parker, Charles, Phillips, John D., Lim, Henry W., Hamzavi, Iltefat, Deybach, Jean-Charles, Kauppinen, Raili, Rhodes, Lesley E., Frank, Jorge, Murphy, Gillian M., Karstens, Francois P.J., Sijbrands, Eric J.G., de Rooij, Felix W.M., Lebwohl, Mark, Naik, Hetanshi, Goding, Colin R., Wilson, J.H. Paul, Desnick, Robert J.
Publicado no N Engl J Med (2015)