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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria by Brennenstuhl, Heiko (Author) , Nashawi, Mohammed (Author) , Schröter, Julian (Author) , Baronio, Federico (Author) , Beedgen, Lars (Author) , Gleich, Florian (Author) , Jeltsch, Kathrin (Author) , Landenberg, Christina von (Author) , Martini, Silvia (Author) , Simon, Anna (Author) , Thiel, Christian (Author) , Tsiakas, Konstantinos (Author) , Opladen, Thomas (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Haas, Dorothea (Author) ,

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

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood by Driedger, Jan Henje (Author) , Saffari, Afshin (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Syrbe, Steffen (Author) ,

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