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Benchmarking whole exome sequencing in the German network for personalized medicine by Menzel, Michael (Author) , Martis-Thiele, Mihaela (Author) , Goldschmid, Hannah (Author) , Ott, Alexander (Author) , Romanovsky, Eva (Author) , Hirsch, Steffen (Author) , Dikow, Nicola (Author) , Göbel, Kirsten (Author) , Banan, Rouzbeh (Author) , Hamelmann, Stefan (Author) , Fink, Annette (Author) , Ball, Markus (Author) , Neumann, Olaf (Author) , Sahm, Felix (Author) , Klauschen, Frederick (Author) , Schaaf, Christian P. (Author) , Malek, Nisar (Author) , Schirmacher, Peter (Author) , Kazdal, Daniel (Author) , Pfarr, Nicole (Author) , Budczies, Jan (Author) , Stenzinger, Albrecht (Author) ,

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

Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD) by Menzel, Michael (Author) , Endris, Volker (Author) , Schwab, Constantin (Author) , Kluck, Klaus (Author) , Neumann, Olaf (Author) , Beck, Susanne (Author) , Ball, Markus (Author) , Schaaf, Christian P. (Author) , Fröhling, Stefan (Author) , Lichtner, Peter (Author) , Schirmacher, Peter (Author) , Kazdal, Daniel (Author) , Stenzinger, Albrecht (Author) , Budczies, Jan (Author) ,

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

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia by Skorvanek, Matej (Author) , Rektorova, Irena (Author) , Mandemakers, Wim (Author) , Wagner, Matias (Author) , Steinfeld, Robert (Author) , Orec, Laura (Author) , Han, Vladimir (Author) , Pavelekova, Petra (Author) , Lackova, Alexandra (Author) , Kulcsarova, Kristina (Author) , Ostrozovicova, Miriam (Author) , Gdovinova, Zuzana (Author) , Plecko, Barbara (Author) , Brunet, Theresa (Author) , Berutti, Riccardo (Author) , Kuipers, Demy J. S. (Author) , Boumeester, Valerie (Author) , Havrankova, Petra (Author) , Tijssen, M. A. J. (Author) , Kaiyrzhanov, Rauan (Author) , Rizig, Mie (Author) , Houlden, Henry (Author) , Winkelmann, Juliane (Author) , Bonifati, Vincenzo (Author) , Zech, Michael (Author) , Jech, Robert (Author) ,

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

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome by Meyer, Robert (Author) , Opladen, Thomas (Author) ,

• Verlag, lizenzpflichtig, Volltext

Mutationssignaturen beim Kopf- und Hals-Tumor by Plath, Michaela (Author) , Heß, Jochen (Author) , Plath, Karim (Author) ,

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

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders by Evers, Christina (Author) , Staufner, Christian (Author) , Granzow, Martin (Author) , Paramasivam, Nagarajan (Author) , Hinderhofer, Katrin (Author) , Kaufmann, Lilian (Author) , Fischer, Christine (Author) , Thiel, Christian (Author) , Opladen, Thomas (Author) , Kotzaeridou, Urania (Author) , Eils, Roland (Author) , Kölker, Stefan (Author) , Bartram, Claus R. (Author) , Hoffmann, Georg F. (Author) , Moog, Ute (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant by Graziano, Claudio (Author) , Wischmeijer, Anita (Author) , Pippucci, Tommaso (Author) , Fusco, Carlo (Author) , Diquigiovanni, Chiara (Author) , Nõukas, Margit (Author) , Sauk, Martin (Author) , Kurg, Ants (Author) , Rivieri, Francesca (Author) , Blau, Nenad (Author) , Hoffmann, Georg F. (Author) , Chaubey, Alka (Author) , Schwartz, Charles E. (Author) , Romeo, Giovanni (Author) , Bonora, Elena (Author) , Garavelli, Livia (Author) , Seri, Marco (Author) ,

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