9 Einträge gefunden

1. Case Report:Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant

   1. Mika, Thomas
   2. Vangala, Deepak
   3. Eckhardt, Matthias
   4. La Rosée, Paul
   5. Lange, Christoph
   6. Lehmberg, Kai
   7. Wohlschläger, Charlotte

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

   1. Kloth-Stachnau, Katja
   2. Cozma, Claudia
   3. Bester, Maxim
   4. Gerloff, Christian
   5. Biskup, Saskia
   6. Zittel, Simone

   2020 - Forschungsinformationssystem des UKE
3. PEDIA: prioritization of exome data by image analysis

   1. Hsieh, Tzung-Chien
   2. Mensah, Martin A
   3. Pantel, Jean T
   4. Aguilar, Dione
   5. Bar, Omri
   6. Bayat, Allan
   7. Becerra-Solano, Luis

   2019 - Forschungsinformationssystem des UKE
4. IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures

   1. Ganos, Christos
   2. Zittel, Simone
   3. Hidding, Ute
   4. Funke, Claudia
   5. Biskup, Saskia
   6. Bhatia, Kailash P

   2019 - Forschungsinformationssystem des UKE
5. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

   1. Syrbe, Steffen
   2. Harms, Frederike L
   3. Parrini, Elena
   4. Montomoli, Martino
   5. Mütze, Ulrike
   6. Helbig, Katherine L
   7. Polster, Tilman

   2017 - Forschungsinformationssystem des UKE
6. Early-onset parkinsonism due to compound heterozygous POLG mutations

   1. Rempe, Torge
   2. Kuhlenbäumer, Gregor
   3. Krüger, Stefanie
   4. Biskup, Saskia
   5. Matschke, Jakob
   6. Hagel, Christian
   7. Deuschl, Günther

   2016 - Forschungsinformationssystem des UKE
7. Phenotypic and molecular insights into CASK-related disorders in males

   1. Moog, Ute
   2. Bierhals, Tatjana
   3. Brand, Kristina
   4. Bautsch, Jan
   5. Biskup, Saskia
   6. Brune, Thomas
   7. Denecke, Jonas

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
8. Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?

   1. Ganos, Christos
   2. Biskup, Saskia
   3. Krüger, Stefanie
   4. Meyer-Osores, Aracelli
   5. Hodecker, Sibylle
   6. Hagel, Christian
   7. Schöls, Ludger

   2014 - Forschungsinformationssystem des UKE
9. Progressive ataxia associated with scarring skin lesions and vertical gaze palsy.

   1. Ganos, Christos
   2. Biskup, Saskia
   3. Kleinmichel, Stefanie
   4. Zittel-Dirks, Simone
   5. Schunke, Odette
   6. Gerloff, Christian
   7. Münchau, Alexander

   2013 - Forschungsinformationssystem des UKE