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Susanne Bauhuber

University of Erlangen-Nuremberg

7

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Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

2008 American Journal of Medical Genetics Part A
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JOHANSON-BLIZZARD-SYNDROM - UBR-1 TARGET IDENTIFICATION BY PROTEOME ANALYSIS AND PATHOPHYSIOLOGICAL RELEVANCE

2008 Pancreas
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Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

2008 World Journal of Gastroenterology
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Letter to JMG SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

2007
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