Medizinische Fakultät

Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Identification of the deregulated NEK1 protein network in skeletal ciliopathies (2020) Vogl C, Keßler K, Gießl A, Kirchner P, Büttner C, Ekici AB, Reis A, Thiel CT Conference contribution Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020) Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution In Situ Metabolomics Expands the Spectrum of Renal Tumours Positive on Tc-99(m)-sestamibi Single Photon Emission Computed Tomography/Computed Tomography Examination (2020) Papathomas T, Tzortzakakis A, Sun N, Erlmeier F, Feuchtinger A, Trpkov K, Bazarova A, et al. Journal article Sharing of decision-making for infective endocarditis surgery: a narrative review of clinical and ethical implications (2020) Pollari F, Spadaccio C, Cuomo M, Chello M, Nenna A, Fischlein T, Nappi F Journal article, Review article Transport of L-Arginine Related Cardiovascular Risk Markers (2020) Banjarnahor S, Rodionov RN, König J, Maas R Journal article, Review article NETs Are Double-Edged Swords with the Potential to Aggravate or Resolve Periodontal Inflammation (2020) Vitkov L, Minnich B, Knopf J, Hannig M, Herrmann M, Schauer C Journal article, Review article