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Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy by Evers, Christina (Author) , Kaufmann, Lilian (Author) , Seitz, Angelika (Author) , Paramasivam, Nagarajan (Author) , Granzow, Martin (Author) , Karch, Stephanie (Author) , Fischer, Christine (Author) , Hinderhofer, Katrin (Author) , Gdynia, Georg (Author) , Elsässer, Michael (Author) , Bartram, Claus R. (Author) , Moog, Ute (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum by Prietsch, Viola (Author) , Mayatepek, Ertan (Author) , Krastel, Hermann (Author) , Haas, Dorothea (Author) , Zundel, Dorothee (Author) , Waterham, Hans R. (Author) , Wanders, Ronald J. A. (Author) , Gibson, K. Michael (Author) , Hoffmann, Georg F. (Author) ,

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