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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management by Avila, Magali (Author) , Moog, Ute (Author) ,

• Verlag, Volltext
• Verlag, Volltext

PIK3R1 mutations in SHORT syndrome by Schroeder, Christopher Maximilian (Author) , Riess, A. (Author) , Bonin, M. (Author) , Bauer, P. (Author) , Riess, O. (Author) , Döbler‐Neumann, M. (Author) , Wieser, S. (Author) , Moog, Ute (Author) , Tzschach, A. (Author) ,

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