Haeuser, Friederike; Goekce, Seyfullah; Werner, Gesa et al.
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibitionMOLECULAR GENETICS AND METABOLISM. Bd. 130. H. 1. 2020 S. 27-35
Hermanns, Pia; Classen, Charlotte; Pohlenz, Joachim
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital HypothyroidismTHYROID. 2020
Lollert, Andre; Hoffmann, Christian; Lache, Michael et al.
Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severityMOLECULAR GENETICS AND METABOLISM. Bd. 130. H. 2. 2020 S. 140-148
Calaminus, Gabriele; Schneider, Dominik T.; von Schweinitz, Dietrich et al.
Age-Dependent Presentation and Clinical Course of 1465 Patients Aged 0 to Less than 18 Years with Ovarian or Testicular Germ Cell Tumors; Data of the MAKEI 96 Protocol Revisited in the Light of Prenatal Germ Cell BiologyCANCERS. Bd. 12. H. 3. 2020
Parini, Rossella; Pintos-Morell, Guillem; Hennermann, Julia B. et al.
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of AgeDRUG DESIGN DEVELOPMENT AND THERAPY. Bd. 14. 2020 S. 2149-2158
Zepp, Fred
Annual Reports from Commissions, Working Groups and Convention of the DGKJ Report of the Commission for Drug Safety in Childhood (KASK)MONATSSCHRIFT KINDERHEILKUNDE. Bd. 168. H. 12. 2020 S. 1158-1168
Neu, Marie Astrid; Stoessell, Sandra; Wingerter, Arthur et al.
Associated Factors to Reduced Physical Activity in Long-Term Childhood Cancer Survivors in GermanyONCOLOGY RESEARCH AND TREATMENT. Bd. 43. 2020 S. 238-238
Heard, Jean-Michel; Vrinten, Charlotte; Schlander, Michael et al.
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN networkORPHANET JOURNAL OF RARE DISEASES. Bd. 15. H. 1. 2020
Eikelberg, Deborah; Lehmbecker, Annika; Brogden, Graham et al.
Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human G(M1)-GangliosidosisJOURNAL OF CLINICAL MEDICINE. Bd. 9. H. 4. 2020
Prawitt, Dirk; Haaf, Thomas
Basics and disturbances of genomic imprintingMEDIZINISCHE GENETIK. Bd. 32. H. 4. 2020 S. 297-304