Klinik für Kinder- und Jugendmedizin

 
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  • 2023 Journal Article | 
    ​ ​The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued​
    Schröder, S.; Yigit, G.; Li, Y.; Altmüller, J.; Büttel, H.-M.; Fiedler, B. & Kretzschmar, C. et al.​ (2023) 
    Orphanet Journal of Rare Diseases18(1) art. 101​.​ DOI: https://doi.org/10.1186/s13023-023-02706-5 
    Details  DOI  PMID  PMC 
  • 2022 Journal Article | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
    Details  DOI  PMID  PMC 
  • 2022 Journal Article | 
    ​ ​Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests​
    Ferreira, E. A.; Veenvliet, A. R. J.; Engelke, U. F. H.; Kluijtmans, L. A. J.; Huigen, M. C. D. G.; Hoegen, B. & de Boer, L. et al.​ (2022) 
    Genetics in Medicine,.​ DOI: https://doi.org/10.1016/j.gim.2022.10.002 
    Details  DOI 
  • 2022 Journal Article
    ​ ​DIPG- Very Long-Term Survivors – are There Factors Which May Predict a Better Outcome?​
    Stock, A.; Brackmann, H.; Warmuth-Metz, M.; Miller, E.; Eyrich, M.; Kramm, C. M. & Schlegel, P. G et al.​ (2022) 
    Klinische Pädiatrie,.​ DOI: https://doi.org/10.1055/a-1849-1478 
    Details  DOI 
  • 2022 Journal Article | 
    ​ ​Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria​
    Grohmann‐Held, K.; Burgard, P.; Baerwald, C. G. O.; Beblo, S.; Dahl, S. vom; Das, A. & Dokoupil, K. et al.​ (2022) 
    Journal of Inherited Metabolic Disease, art. jimd.12544​.​ DOI: https://doi.org/10.1002/jimd.12544 
    Details  DOI 
  • 2022 Journal Article | 
    ​ ​A microRNA Prognostic Signature in Patients with Diffuse Intrinsic Pontine Gliomas through Non-Invasive Liquid Biopsy​
    Iannó, M. F.; Biassoni, V.; Schiavello, E.; Carenzo, A.; Boschetti, L.; Gandola, L. & Diletto, B. et al.​ (2022) 
    Cancers14(17) pp. 4307​.​ DOI: https://doi.org/10.3390/cancers14174307 
    Details  DOI 
  • 2022 Journal Article | 
    ​ ​Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy​
    Döring, J. H.; Saffari, A.; Bast, T.; Brockmann, K. ; Ehrhardt, L.; Fazeli, W. & Janzarik, W. G. et al.​ (2022) 
    Neurology Genetics8(5) art. e200020​.​ DOI: https://doi.org/10.1212/NXG.0000000000200020 
    Details  DOI 
  • 2022 Journal Article
    ​ ​Weight development in children and adolescents with obesity during the COVID-19 pandemic​
    Galler, A.; Röbl, M.; Prinz, N.; Dannemann, A.; Gellhaus, I.; Kapellen, T. & Linke, S. et al.​ (2022) 
    Deutsches Ärzteblatt international,.​ DOI: https://doi.org/10.3238/arztebl.m2022.0155 
    Details  DOI 
  • 2022 Journal Article | 
    ​ ​Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision​
    Boy, N.; Mühlhausen, C.; Maier, E. M.; Ballhausen, D.; Baumgartner, M. R.; Beblo, S. & Burgard, P. et al.​ (2022) 
    Journal of Inherited Metabolic Disease, art. jimd.12566​.​ DOI: https://doi.org/10.1002/jimd.12566 
    Details  DOI 
  • 2022 Journal Article | 
    ​ ​Distress in soft‐tissue sarcoma and gastrointestinal stromal tumours patients—Results of a German multicentre observational study (PROSa)​
    Eichler, M.; Hentschel, L.; Singer, S.; Hornemann, B.; Hohenberger, P.; Kasper, B. & Andreou, D. et al.​ (2022) 
    Psycho-Oncology, art. pon.6009​.​ DOI: https://doi.org/10.1002/pon.6009 
    Details  DOI 
  • 2022 Journal Article
    ​ ​A Novel Homozygous PDE 10A Variant Leading to Infantile-Onset Hyperkinesia​
    Trieschmann, G.; Wach, K.; Abel, M.; Tilgner, E.; Berweck, S. & Zech, M.​ (2022) 
    Neuropediatrics,.​ DOI: https://doi.org/10.1055/a-1892-1547 
    Details  DOI 
  • 2022 Journal Article | Overview | 
    ​ ​Calcium in peroxisomes: An essential messenger in an essential cell organelle​
    Sargsyan, Y.; Kalinowski, J. & Thoms, S. ​ (2022) 
    Frontiers in Cell and Developmental Biology10 art. 992235​.​ DOI: https://doi.org/10.3389/fcell.2022.992235 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders​
    Klemp, H. G.; Kettwig, M.; Streit, F. ; Gärtner, J. ; Rosewich, H.   & Krätzner, R. ​ (2021) 
    Metabolites11(6) pp. 347​.​ DOI: https://doi.org/10.3390/metabo11060347 
    Details  DOI  PMID  PMC 
  • 2020 Journal Article | Research Paper | 
    ​ ​Combined treatment with CBP and BET inhibitors reverses inadvertent activation of detrimental super enhancer programs in DIPG cells​
    Wiese, M. ; Hamdan, F. H. ; Kubiak, K.; Diederichs, C. ; Gielen, G. H.; Nussbaumer, G. & Carcaboso, A. M. et al.​ (2020) 
    Cell Death & Disease11(8).​ DOI: https://doi.org/10.1038/s41419-020-02800-7 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Elektrokonvulsionstherapie in der Schwangerschaft: Fallbericht und interdisziplinäre Behandlungsvorschläge​
    Zilles-Wegner, D.; Trost, S. ; Walliser, K. ; Saager, L. ; Horn, S.   & Ernst, M.​ (2020) 
    Der Nervenarzt92(1) pp. 50​-56​.​ DOI: https://doi.org/10.1007/s00115-020-00960-7 
    Details  DOI 
  • 2018 Journal Article | 
    ​ ​A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial​
    Crow, R. A; Hart, K. A; McDermott, M. P; Tawil, R.; Martens, W. B; Herr, B. E & McColl, E. et al.​ (2018) 
    Trials19(1) art. 291​.​ DOI: https://doi.org/10.1186/s13063-018-2645-0 
    Details  DOI 
  • 2018 Journal Article | 
    ​ ​Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patients​
    Wuerfel, E.; Weddige, A.; Hagmayer, Y.; Jacob, R.; Wedekind, L.; Stark, W. & Gärtner, J. ​ (2018) 
    PLoS One13(3) art. e0194873​.​ DOI: https://doi.org/10.1371/journal.pone.0194873 
    Details  DOI  PMID  PMC 

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