Search Results - Janecke, Andreas

Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the <i>UNC45A</i> c.710T>C variant in osteo-oto-hepato-enteric syndrome by Waich, Stephanie (Author) , Kreidl, Karin (Author) , Vodopiutz, Julia (Author) , Demir, Arzu Meltem (Author) , Pollio, Adam R. (Author) , Dostál, Vojtěch (Author) , Pfaller, Kristian (Author) , Parlato, Marianna (Author) , Cerf-Bensussan, Nadine (Author) , Adam, Rüdiger (Author) , Vogel, Georg F. (Author) , Uhlig, Holm H. (Author) , Ruemmele, Frank M. (Author) , Müller, Thomas (Author) , Hess, Michael W. (Author) , Janecke, Andreas R. (Author) , Huber, Lukas A. (Author) , Valovka, Taras (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Pathogenic deep intronic PCSK1 variant causes proprotein convertase 1/3 deficiency in a family: short report by Huber, Leah M. (Author) , Subaşıoğlu, Aslı (Author) , Garczarczyk-Asim, Dorota (Author) , Valovka, Taras (Author) , Müller, Thomas (Author) , Adam, Rüdiger (Author) , Janecke, Andreas R. (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure by Schlieben, Lea D. (Author) , Achleitner, Melanie T. (Author) , Bourke, Billy (Author) , Diesner, Max (Author) , Feichtinger, René G. (Author) , Fichtner, Alexander (Author) , Flechtenmacher, Christa (Author) , Hadzic, Nedim (Author) , Hegarty, Robert (Author) , Heilos, Andreas (Author) , Janecke, Andreas (Author) , Konstantopoulou, Vassiliki (Author) , Lenz, Dominic (Author) , Mayr, Johannes A. (Author) , Müller, Thomas (Author) , Prokisch, Holger (Author) , Vogel, Georg (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Eculizumab for atypical hemolytic-uremic syndrome by Nürnberger, Jens (Author) , Philipp, Thomas (Author) , Witzke, Oliver (Author) , Opazo Saez, Anabelle (Author) , Vester, Udo (Author) , Baba, Hideo Andreas (Author) , Kribben, Andreas (Author) , Zimmerhackl, Lothar Bernd (Author) , Janecke, Andreas R. (Author) , Nagel, Mato (Author) , Kirschfink, Michael (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Anwendung der indirekten Kalorimetrie zur Ernährungssteuerung bei kleinen Frühgeborenen by Krämer, Thomas (Author) , Böhler, Thomas (Author) , Janecke, Andreas (Author) , Hoffmann, Georg F. (Author) , Linderkamp, Otwin (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants by Böhler, Thomas (Author) , Krämer, Thomas (Author) , Janecke, Andreas (Author) , Hoffmann, Georg F. (Author) , Linderkamp, Otwin (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Energieumsatzbestimmung mittels indirekter Kalorimetrie und Doubly-Labelled-Water Methode bei spontan atmenden Frühgeborenen by Janecke, Andreas (Author)