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Ertan Mayatepek

  1. Neonatal encephalocardiomyopathy caused by mutations in VARS2
    2016/08/08 by Fabian Baertling, Bader Alhaddad, Annette Seibt +9 · 2 citations
    Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Mitochondrial Function and Pathology #RNA and protein synthesis mechanisms
  2. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
    2016/01/16 by Katharina Danhauser, Tobias B. Haack, Bader Alhaddad +8 · 2 citations
    Biochemistry, Genetics and Molecular Biology · #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #RNA modifications and cancer
  3. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
    2017/01/26 by Yair Anikster, Tobias B. Haack, Thierry Vilboux +46 · 25 citations
    Biochemistry, Genetics and Molecular Biology · #Metabolism and Genetic Disorders #RNA modifications and cancer #Mitochondrial Function and Pathology
  4. Physiology and diagnostic potential of beta-hydroxybutyrate in neonatal glycemia – a prospective cohort study
    2026/07/24 by Henrike Hoermann, Ertan Mayatepek, Thomas Meissner +2