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Author/Creator Rost, Simone

1. Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. Issue 8 (24th April 2019)

Authors:
Kolokotronis, Konstantinos; Kühnisch, Jirko; Klopocki, Eva; Dartsch, Josephine; Rost, Simone; Huculak, Cathleen; Mearini, Giulia; Störk, Stefan; Carrier, Lucie; Klaassen, Sabine; Gerull, Brenda
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1101
Record Type:
Journal Article
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3. Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. (15th August 2017)

Authors:
Schorling, David C.; Rost, Simone; Lefeber, Dirk J.; Brady, Lauren; Müller, Clemens R.; Korinthenberg, Rudolf; Tarnopolsky, Mark; Bönnemann, Carsten G.; Rodenburg, Richard J.; Bugiani, Marianna; Beytia, Maria; Krüger, Marcus; van der Knaap, Marjo; Kirschner, Jan
Journal:
Neurology
Issue:
Volume 89:Number 7(2017)
Page Start:
Record Type:
Journal Article
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4. Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients. Issue 6 (25th April 2018)

Authors:
Böck, Julia; Appenzeller, Silke; Haertle, Larissa; Schneider, Tamara; Gehrig, Andrea; Schröder, Jörg; Rost, Simone; Wolf, Beat; Bartram, Claus R.; Sutter, Christian; Haaf, Thomas
Journal:
International journal of cancer
Issue:
Volume 143:Issue 6(2018)
Page Start:
1416
Record Type:
Journal Article
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5. The identification of patient‐specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild‐type melanomas. Issue 4 (18th December 2018)

Authors:
Appenzeller, Silke; Gesierich, Anja; Thiem, Alexander; Hufnagel, Anita; Jessen, Christina; Kneitz, Hermann; Regensburger, Martina; Schmidt, Cornelia; Zirkenbach, Vanessa; Bischler, Thorsten; Schilling, Bastian; Siedel, Claudia; Goebeler, Maria‐Elisabeth; Houben, Roland; Schrama, David; Gehrig, An...
Journal:
Cancer
Issue:
Volume 125:Issue 4(2019)
Page Start:
586
Record Type:
Journal Article
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