Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross‐sectional study in Sweden von Frank, J., Poblete‐Gutiérrez, P.

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Valuable insights from molecular genetic studies in the porphyrias von Frank, J., Poblete-Gutiérrez, P.

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Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda von Frank, J, Poblete-Gutiérrez, P, Weiskirchen, R, Gressner, O, Merk, H F, Lammert, F

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The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies von van Tuyll van Serooskerken, A.-M., Poblete-Gutiérrez, P., Frank, J.

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Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease von Fölster-Holst, R., Nellen, R.G.L., Jensen, J.-M., Poblete-Gutiérrez, P., Steijlen, P.M., Schwarz, T., Happle, R., Van Geel, M., Frank, J.

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Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria von Wiederholt, T, Poblete-Gutiérrez, P, Gardlo, K, Goerz, G, Bolsen, K, Merk, H F, Frank, J

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Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry von van Tuyll van Serooskerken, A.M., Drögemöller, B.I., te Velde, K., Bladergroen, R.S., Steijlen, P.M., Poblete-Gutiérrez, P., van Geel, M., van Heerden, C.J., Warnich, L., Frank, J.

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Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene von Poblete-Gutiérrez, P, Wiederholt, T, Martinez-Mir, A, Merk, H F, Connor, J M, Christiano, A M, Frank, J

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Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene von Méndez, M., Poblete-Gutiérrez, P., García-Bravo, M., Wiederholt, T., Morán-Jiménez, M.J., Merk, H.F., Garrido-Astray, M.C., Frank, J., Fontanellas, A., Enríquez de Salamanca, R.

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A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America von Poblete‐Gutiérrez, P., Wolff, C., Farias, R., Frank, J.

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Nodular vasculitis in systemic lupus erythematosus von Westers‐Attema, Annet, Van Tubergen, A., Plasschaert, H., Van Marion, A. M. W., Frank, J., Poblete‐Gutiérrez, P.

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Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia von Bergmann, C., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutiérrez, P., van Steensel, M., Seelow, D., Nürnberg, G., Schild, H.H., Nürnberg, P., Reis, A., Frank, J., Zerres, K.

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An improved and rapid method to construct skin equivalents from human hair follicles and fibroblasts von Hoeller, D., Huppertz, B., Roos, T. C., Poblete Gutiérrez, P., Merk, H. F., Frank, J., Jugert, F. K.

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A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma von Méndez, M., Poblete-Gutiérrez, P., Morán-Jiménez, M.-J., Rodriguez, M.-E., Garrido-Astray, M.-C., Fontanellas, A., Frank, J., De Salamanca, R.E.

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Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? von Badeloe, S., Van Spaendonck-Zwarts, K.Y., Van Steensel, M.A.M., Van Marion, A.M.W., Van Essen, A.J., Jonkman, M.F., Steijlen, P.M., Poblete-Gutiérrez, P., Van Geel, M., Frank, J.

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Hepatocellular Carcinoma in Variegate Porphyria: A Serious Complication von SCHNEIDER-YIN, Xiaoye, VAN TUYLL VAN SEROOSKERKEN, Anne-Moon, WENT, Philip, TYBLEWSKI, Wojciech, POBLETE-GUTIERREZ, Pamela, MINDER, Elisabeth I, FRANK, Jorge

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Nail pigmentation due to hydroxycarbamide von Ceulen, Roeland P. M., Frank, Jorge, Poblete‐Gutiérrez, Pamela

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Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden: Editorial: Cross-sectional study on erythropoietic... von Frank, J., Poblete-Gutiérrez, P.

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Valuable insights from molecular genetic studies in the porphyrias: Commentaries von Frank, J., Poblete-Gutiérrez, P.

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Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease: Correspondence von Fölster-Holst, R., Nellen, R.G.L., Jensen, J.-M., Poblete-Gutiérrez, P., Steijlen, P.M., Schwarz, T., Happle, R., Van Geel, M., Frank, J.

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