IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response von Oeffner, Frank, Fischer, Gayle, Happle, Rudolf, König, Arne, Betz, Regina C., Bornholdt, Dorothea, Neidel, Ulrike, del Carmen Boente, María, Redler, Silke, Romero-Gomez, Javier, Salhi, Aïcha, Vera-Casaño, Ángel, Weirich, Christian, Grzeschik, Karl-Heinz

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Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome von Oeffner, Frank, Martinez, Francisco, Schaffer, Julie, Salhi, Aïcha, Monfort, Sandra, Oltra, Silvestre, Neidel, Ulrike, Bornholdt, Dorothea, van Bon, Bregje, König, Arne, Happle, Rudolf, Grzeschik, Karl-Heinz

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Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium von Zimmer, G, Oeffner, F, Von Messling, V, Tschernig, T, Gröness, H J, Klenk, H D, Herrler, G

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Deficiency of PORCN , a regulator of Wnt signaling, is associated with focal dermal hypoplasia von Hertl, Michael, Happle, Rudolf, Oeffner, Frank, Bornholdt, Dorothea, del Carmen Boente, María, Szalai, Zsuzsanna, Oji, Vinzenz, Traupe, Heiko, Schuchardt, Christian, Tadini, Gianluca, König, Arne, Paradisi, Mauro, Fritz, Barbara, Höfling, Katja, Grasshoff, Ute, Enders, Herbert, Grzeschik, Karl-Heinz

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Is the risk of multiple sclerosis related to the ‘biography’ of the immune system? von Krone, Bernd, Oeffner, Frank, Grange, John M.

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An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation von Houge, Gunnar, Oeffner, Frank, Grzeschik, Karl-Heinz

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Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 von Bornholdt, Dorothea, Atkinson, T. Prescott, Bouadjar, Bakar, Catteau, Benoit, Cox, Helen, De Silva, Deepthi, Fischer, Judith, Gunasekera, Chalukya N., Hadj-Rabia, Smaïl, Happle, Rudolf, Holder-Espinasse, Muriel, Kaminski, Elke, König, Arne, Mégarbané, André, Mégarbané, Hala, Neidel, Ulrike, Oeffner, Frank, Oji, Vinzenz, Theos, Amy, Traupe, Heiko, Vahlquist, Anders, van Bon, Bregje W., Virtanen, Marie, Grzeschik, Karl-Heinz

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Menkes disease with discordant phenotype in female monozygotic twins von Burgemeister, Anna Lena, Zirn, Birgit, Oeffner, Frank, Kaler, Stephen G., Lemm, Gunther, Rossier, Eva, Büttel, Hans-Martin

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Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene von SALHI, Aicha, BORNHOLDT, Dorothea, OEFFNER, Frank, MALIK, Sajid, HEID, Ernest, HAPPLE, Rudolf, GRZESCHIK, Karl-Heinz

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PORCN mutations in focal dermal hypoplasia: coping with lethality von Bornholdt, Dorothea, Oeffner, Frank, König, Arne, Happle, Rudolf, Alanay, Yasemin, Ascherman, Jeffrey, Benke, Paul J, del Carmen Boente, María, van der Burgt, Ineke, Chassaing, Nicolas, Ellis, Ian, Francisco, Christina Raissa I, Giovanna, Patricia Della, Hamel, Ben, Has, Cristina, Heinelt, Kaatje, Janecke, Andreas, Kastrup, Wolfgang, Loeys, Bart, Lohrisch, Ingo, Marcelis, Carlo, Mehraein, Yasmin, Nicolas, Marie Eleanore O, Pagliarini, Dana, Paradisi, Mauro, Patrizi, Annalisa, Piccione, Maria, Piza-Katzer, Hildegunde, Prager, Bettina, Prescott, Katrina, Strien, Juliane, Utine, G. Eda, Zeller, Marc S, Grzeschik, Karl-Heinz

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Common infectious agents in multiple sclerosis: a case—control study in children von Krone, Bernd, Pohl, Daniela, Rostasy, Kevin, Kahler, Elke, Brunner, Edgar, Oeffner, Frank, Grange, John M., Gärtner, Jutta, Hanefeld, Folker

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Monozygotic twins discordant for Proteus syndrome von Brockmann, Knut, Happle, Rudolf, Oeffner, Frank, König, Arne

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Donor Dominance Cures CHILD Nevus von König, Arne, Skrzypek, Jan, Löffler, Harald, Oeffner, Frank, Grzeschik, Karl-Heinz, Happle, Rudolf

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Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium von ZIMMER, Gert, OEFFNER, Frank, MESSLING, V. V, TSCHERNIG, Thomas, GRÖNE, H, KLENK, H, HERRLER, Georg

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Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome: Letter to the Editor von Oeffner, Frank, Martinez, Francisco, Schaffer, Julie, Salhi, Aïcha, Monfort, Sandra, Oltra, Silvestre, Neidel, Ulrike, Bornholdt, Dorothea, van Bon, Bregje, König, Arne, Happle, Rudolf, Grzeschik, Karl-Heinz

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Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31 von MALIK, Sajid, SCHOTT, Jörg, WAJAHAT ALI, Syed, OEFFNER, Frank, AMIN-UD-DIN, Muhammad, AHMAD, Wasim, GRZESCHIK, Karl-Heinz, KOCH, Manuela C

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Independent Confirmation of a Major Locus for Obesity on Chromosome 10 von Hinney, Anke, Ziegler, Andreas, Oeffner, Frank, Wedewardt, Christine, Vogel, Markus, Wulftange, Heiko, Geller, Frank, Stübing, Kurt, Siegfried, Wolfgang, Goldschmidt, Hans-Peter, Remschmidt, Helmut, Hebebrand, Johannes

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PORCN mutations in focal dermal hypoplasia: coping with lethality von Bornholdt, Dorothea, Oeffner, Frank, König, Arne, Happle, Rudolf, Alanay, Yasemin, Ascherman, Jeffrey, Benke, Paul J., del Carmen Boente, María, van der Burgt, Ineke, Chassaing, Nicolas, Ellis, Ian, Francisco, Christina Raissa I., Giovanna, Patricia Della, Hamel, Ben, Has, Cristina, Heinelt, Kaatje, Janecke, Andreas, Kastrup, Wolfgang, Loeys, Bart, Lohrisch, Ingo, Marcelis, Carlo, Mehraein, Yasmin, Nicolas, Marie Eleanore O., Pagliarini, Dana, Paradisi, Mauro, Patrizi, Annalisa, Piccione, Maria, Piza-Katzer, Hildegunde, Prager, Bettina, Prescott, Katrina, Strien, Juliane, Utine, G. Eda, Zeller, Marc S., Grzeschik, Karl-Heinz

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Interactive e-learning courses in human genetics: usage and evaluation by science and medical students at the faculty of medicin von Oeffner, Frank, Schäfer, Christine, Fritz, Barbara, Fuchs, Aurelia Lara, Rauschendorf, Alexander, König, Rainer, Kunz, Jürgen

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PORCN mutations in focal dermal hypoplasia: coping with lethality: PORCN Mutations in FDH von Bornholdt, Dorothea, Oeffner, Frank, König, Arne, Happle, Rudolf, Alanay, Yasemin, Ascherman, Jeffrey, Benke, Paul J., del Carmen Boente, María, van der Burgt, Ineke, Chassaing, Nicolas, Ellis, Ian, Francisco, Christina Raissa I., Giovanna, Patricia Della, Hamel, Ben, Has, Cristina, Heinelt, Kaatje, Janecke, Andreas, Kastrup, Wolfgang, Loeys, Bart, Lohrisch, Ingo, Marcelis, Carlo, Mehraein, Yasmin, Nicolas, Marie Eleanore O., Pagliarini, Dana, Paradisi, Mauro, Patrizi, Annalisa, Piccione, Maria, Piza-Katzer, Hildegunde, Prager, Bettina, Prescott, Katrina, Strien, Juliane, Utine, G. Eda, Zeller, Marc S., Grzeschik, Karl-Heinz

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