Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing von Alkhouri, Naim, Kaplan, Barbara, Kay, Marsha, Shealy, Amy, Crowe, Carol, Bauhuber, Susanne, Zenker, Martin

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome von Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth-Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen-Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars-Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin

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914 Johanson-Blizzard-Syndrom – UBR-1 Target Identification By Proteome Analysis and Pathophysiological Relevance von Mayerle, Julia, Karanam, Narasihma K, Zenker, Martin, Krüger, Burkhard, Bauhuber, Susanne, Weiss, Frank U, Völker, Uwe, Lerch, Markus M

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Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy von Elting, Mariet, Kariminejad, Ariana, de Sonnaville, Marie‐Louise, Ottenkamp, Jaap, Bauhuber, Susanne, Bozorgmehr, Bita, Zenker, Martin, Cobben, Jan M.

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Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy von Elting, Mariet, Kariminejad, Ariana, de Sonnaville, Marie-Louise, Ottenkamp, Jaap, Bauhuber, Susanne, Bozorgmehr, Bita, Zenker, Martin, Cobben, Jan M.

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome von Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, Burgt, Ineke van der, Doerr, Helmuth-Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen-Kaesbach, Gabriele, Kock, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, Schnakenburg, Christian von, Seidel, Heide, Wehner, Lars-Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin

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