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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy by Smits, Paulien (Author) , Saada, Ann (Author) , Wortmann, Saskia B. (Author) , Heister, Angelien J. (Author) , Brink, Maaike (Author) , Pfundt, Rolph (Author) , Miller, Chaya (Author) , Haas, Dorothea (Author) , Hantschmann, Ralph (Author) , Rodenburg, Richard J. T. (Author) , Smeitink, Jan A. M. (Author) , van den Heuvel, Lambert P. (Author) ,

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