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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23.
J Med Genet. 2007.
PMID: 17586837
Free PMC article.
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia.
Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergsträsser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Starý J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M.
Kratz CP, et al. Among authors: bauhuber s.
Leukemia. 2007 May;21(5):1108-9. doi: 10.1038/sj.leu.2404620. Epub 2007 Feb 22.
Leukemia. 2007.
PMID: 17315019
No abstract available.
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Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM.
Elting M, et al. Among authors: bauhuber s.
Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566.
Am J Med Genet A. 2008.
PMID: 19006206
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Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M.
Alkhouri N, et al. Among authors: bauhuber s.
World J Gastroenterol. 2008 Nov 28;14(44):6863-6. doi: 10.3748/wjg.14.6863.
World J Gastroenterol. 2008.
PMID: 19058315
Free PMC article.
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Alginates as tablet disintegrants: Understanding disintegration mechanisms and defining ranges of applications.
Berardi A, Bauhuber S, Sawafta O, Warnke G.
Berardi A, et al. Among authors: bauhuber s.
Int J Pharm. 2021 May 15;601:120512. doi: 10.1016/j.ijpharm.2021.120512. Epub 2021 Mar 22.
Int J Pharm. 2021.
PMID: 33766641
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Disintegrant Selection in Hydrophobic Tablet Formulations.
Bauhuber S, Warnke G, Berardi A.
Bauhuber S, et al.
J Pharm Sci. 2021 May;110(5):2028-2037. doi: 10.1016/j.xphs.2020.11.002. Epub 2020 Nov 10.
J Pharm Sci. 2021.
PMID: 33181185
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A library of strictly linear poly(ethylene glycol)-poly(ethylene imine) diblock copolymers to perform structure-function relationship of non-viral gene carriers.
Bauhuber S, Liebl R, Tomasetti L, Rachel R, Goepferich A, Breunig M.
Bauhuber S, et al.
J Control Release. 2012 Sep 10;162(2):446-55. doi: 10.1016/j.jconrel.2012.07.017. Epub 2012 Jul 20.
J Control Release. 2012.
PMID: 22820448
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Delivery of nucleic acids via disulfide-based carrier systems.
Bauhuber S, Hozsa C, Breunig M, Göpferich A.
Bauhuber S, et al.
Adv Mater. 2009 Sep 4;21(32-33):3286-306. doi: 10.1002/adma.200802453.
Adv Mater. 2009.
PMID: 20882498
Review.
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