Search Results - Syrbe, Steffen

Refine Results
  1. 1
    Cover Image

    KaRhab: an international online registry for cardiac rhabdomyomas by Herrmann, Vera-Maria (Author) , Arélin, Maria (Author) , Bergner, Caroline G. (Author) , Herrmann, Julia (Author) , Janz, Paula (Author) , Kiep, Henriette (Author) , Mueller, Annika (Author) , Syrbe, Steffen (Author) , Wagner, Robert (Author) , Wannenmacher, Bardo (Author) , Wolf, Nadine (Author) , Weidenbach, Michael (Author) , Strehlow, Vincent (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  2. 2
    Cover Image

    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized,... by Driedger, Jan Henje (Author) , Schröter, Julian (Author) , Hertzberg, Christoph (Author) , Weschke, Bernhard (Author) , Kaindl, Angela M. (Author) , Lücke, Thomas (Author) , Thiels, Charlotte (Author) , Klotz, Kerstin A. (Author) , Fazeli, Walid (Author) , Rostásy, Kevin (Author) , Wiethoff-Ubrig, Lucia (Author) , Kaiser, Olaf (Author) , Trollmann, Regina (Author) , Mammadova, Dilbar (Author) , Schubert-Bast, Susanne (Author) , Bach, Alexia (Author) , Eckenweiler, Matthias (Author) , Schönberger, Jan (Author) , Martakis, Kyriakos (Author) , Hahn, Andreas (Author) , Brockmann, Knut (Author) , Dreha-Kulaczewski, Steffi (Author) , Weiss, Deike (Author) , Denecke, Jonas (Author) , Muhle, Hiltrud (Author) , Arélin, Maria (Author) , Merkenschlager, Andreas (Author) , Borggräfe, Ingo (Author) , Roser, Timo (Author) , Ebrahimi-Fakhari, Daniel (Author) , Fiedler, Barbara (Author) , Schlump, Jan-Ulrich (Author) , Köster, Ilka (Author) , Korenke, Christoph (Author) , Alber, Michael (Author) , Ruf, Susanne (Author) , Feucht, Martha (Author) , Scholl, Theresa (Author) , Syrbe, Steffen (Author) , Saffari, Afshin (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  3. 3
    Cover Image

    Correlation of endoscopic third ventriculostomy with postoperative body temperature elevation: a single-center retrospective comparative study by Issa, Mohammed (Author) , Dannehl, Clara (Author) , Seitz, Angelika (Author) , Lenga, Pavlina (Author) , Syrbe, Steffen (Author) , Krieg, Sandro (Author) , El Damaty, Ahmed (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  4. 4
    Cover Image

    De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies by Weisz-Hubshman, Monika (Author) , Burrage, Lindsay C. (Author) , Jangam, Sharayu V. (Author) , Rosenfeld, Jill A. (Author) , Hardenberg, Sandra von (Author) , Bergmann, Anke (Author) , Richter, Manuela Friederike (Author) , Rydzanicz, Malgorzata (Author) , Ploski, Rafal (Author) , Stembalska, Agnieszka (Author) , Chung, Wendy K. (Author) , Hernan, Rebecca R. (Author) , Lim, Foong Y. (Author) , Brunet, Theresa (Author) , Syrbe, Steffen (Author) , Keren, Boris (Author) , Heide, Solveig (Author) , Murdock, David R. (Author) , Dai, Hongzheng (Author) , Xia, Fan (Author) , Ketkar, Shamika (Author) , Dawson, Brian (Author) , Narayanan, Vinodh (Author) , Graves, Hillary K. (Author) , Wangler, Michael F. (Author) , Bacino, Carlos (Author) , Lee, Brendan (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  5. 5
    Cover Image

    Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors: results from a European survey by Lersch, Robert (Author) , Hartlieb, Till (Author) , Pieper, Tom (Author) , Kudernatsch, Manfred (Author) , Hofer, Wiebke (Author) , Barba, Carmen (Author) , Guerrini, Renzo (Author) , Giordano, Flavio (Author) , Pommella, Marianna (Author) , Schubert-Bast, Susanne (Author) , Syrbe, Steffen (Author) , Rego, Ricardo (Author) , Pinheiro, Jorge (Author) , Feucht, Martha (Author) , Beck, Alexander (Author) , Coras, Roland (Author) , Blumcke, Ingmar (Author) , Alber, Michael (Author) , Tacke, Moritz (Author) , Rémi, Jan (Author) , Vollmar, Christian (Author) , Kunz, Mathias (Author) , Shetty, Jay (Author) , McLellan, Ailsa (Author) , Sokol, Drahoslav (Author) , Kandasamy, Jothy (Author) , Klotz, Kerstin Alexandra (Author) , San Antonio-Arce, Victoria (Author) , Schulze-Bonhage, Andreas (Author) , Pepper, Joshua (Author) , Lo, William B. (Author) , Arzimanoglou, Alexis (Author) , Francione, Stefano (Author) , Braun, Christian J. (Author) , Borggräfe, Ingo (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  6. 6
    Cover Image

    Fat embolism syndrome in Duchenne muscular dystrophy: report on a novel case and systematic literature review by Specht, Sabine (Author) , Zhukova, Irina (Author) , Westhoff, Jens (Author) , Erb, Larissa Diana (Author) , Ziegler, Andreas (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Hagmann, Sébastien (Author) , Syrbe, Steffen (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  7. 7
    Cover Image

    Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity by Kalm, Tassja (Author) , Schob, Claudia (Author) , Völler, Hanna (Author) , Gardeitchik, Thatjana (Author) , Gilissen, Christian (Author) , Pfundt, Rolph (Author) , Klöckner, Chiara (Author) , Platzer, Konrad (Author) , Klabunde-Cherwon, Annick (Author) , Ries, Markus (Author) , Syrbe, Steffen (Author) , Beccaria, Francesca (Author) , Madia, Francesca (Author) , Scala, Marcello (Author) , Zara, Federico (Author) , Hofstede, Floris (Author) , Simon, Marleen E. H. (Author) , Jaarsveld, Richard H. van (Author) , Oegema, Renske (Author) , Gassen, Koen L. I. van (Author) , Holwerda, Sjoerd J. B. (Author) , Barakat, Tahsin Stefan (Author) , Bouman, Arjan (Author) , Slegtenhorst, Marjon van (Author) , Álvarez, Sara (Author) , Fernández-Jaén, Alberto (Author) , Porta, Javier (Author) , Accogli, Andrea (Author) , Mancardi, Margherita Maria (Author) , Striano, Pasquale (Author) , Iacomino, Michele (Author) , Chae, Jong-Hee (Author) , Jang, SeSong (Author) , Kim, Soo Y. (Author) , Chitayat, David (Author) , Mercimek-Andrews, Saadet (Author) , Depienne, Christel (Author) , Kampmeier, Antje (Author) , Kuechler, Alma (Author) , Surowy, Harald (Author) , Bertini, Enrico Silvio (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Pizzi, Simone (Author) , Tartaglia, Marco (Author) , Gauthier, Lucas (Author) , Genevieve, David (Author) , Tharreau, Mylène (Author) , Azoulay, Noy (Author) , Zaks-Hoffer, Gal (Author) , Gilad, Nesia K. (Author) , Orenstein, Naama (Author) , Bernard, Geneviève (Author) , Thiffault, Isabelle (Author) , Denecke, Jonas (Author) , Herget, Theresia (Author) , Kortüm, Fanny (Author) , Kubisch, Christian (Author) , Bähring, Robert (Author) , Kindler, Stefan (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  8. 8
    Cover Image

    Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex by Sandmann, Christoph (Author) , Syrbe, Steffen (Author) , Hebe, Joachim (Author) , Kreft, Jannis (Author) , Stark, Sebastian (Author) , Milde, Till (Author) , Völkers, Mirko (Author) , Hoffmann, Georg F. (Author) , Gorenflo, Matthias (Author) , Kovacevic, Alexander (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  9. 9
    Cover Image

    Early life seizures and epileptic spasms in -related disorders by Thalwitzer, Kim M. (Author) , Xian, Julie (Author) , de Campo, Danielle (Author) , Parthasarathy, Shridhar (Author) , Magielski, Jan (Author) , Sullivan, Katie R. (Author) , Goss, James (Author) , Rigby, Charlene Son (Author) , Boland, Michael (Author) , Prosser, Ben (Author) , Ruggiero, Sarah M. (Author) , Syrbe, Steffen (Author) , Helbig, Ingo (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  10. 10
    Cover Image

    De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity by Tessarech, Marine (Author) , Friocourt, Gaëlle (Author) , Marguet, Florent (Author) , Lecointre, Maryline (Author) , Le Mao, Morgane (Author) , Díaz, Rodrigo Muñoz (Author) , Mignot, Cyril (Author) , Keren, Boris (Author) , Héron, Bénédicte (Author) , De Bie, Charlotte (Author) , Van Gassen, Koen (Author) , Loisel, Didier (Author) , Delorme, Benoit (Author) , Syrbe, Steffen (Author) , Klabunde-Cherwon, Annick (Author) , Jamra, Rami Abou (Author) , Wegler, Meret (Author) , Callewaert, Bert (Author) , Dheedene, Annelies (Author) , Zidane-Marinnes, Merzouka (Author) , Guichet, Agnès (Author) , Bris, Céline (Author) , Van Bogaert, Patrick (Author) , Biquard, Florence (Author) , Lenaers, Guy (Author) , Marcorelles, Pascale (Author) , Ferec, Claude (Author) , Gonzalez, Bruno (Author) , Procaccio, Vincent (Author) , Vitobello, Antonio (Author) , Bonneau, Dominique (Author) , Laquerriere, Annie (Author) , Khiati, Salim (Author) , Colin, Estelle (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  11. 11
    Cover Image

    Systematic quantitative modeling of the natural history of Aicardi syndrome: a cross sectional study of 245 published cases by Urban, Oliver Y. (Author) , Driedger, Jan Henje (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Ries, Markus (Author) , Syrbe, Steffen (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  12. 12
    Cover Image

    Clinical features and genotype-phenotype correlations in epilepsy patients with de novo variants by Cuccurullo, Claudia (Author) , Syrbe, Steffen (Author) , Schuler, Elisabeth (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  13. 13
    Cover Image

    Genome sequencing for diagnosing rare diseases by Wojcik, Monica H. (Author) , Lemire, Gabrielle (Author) , Berger, Eva (Author) , Zaki, Maha S. (Author) , Wissmann, Mariel (Author) , Win, Wathone (Author) , White, Susan M. (Author) , Weisburd, Ben (Author) , Wieczorek, Dagmar (Author) , Waddell, Leigh B. (Author) , Verboon, Jeffrey M. (Author) , VanNoy, Grace E. (Author) , Töpf, Ana (Author) , Tan, Tiong Yang (Author) , Syrbe, Steffen (Author) , Strehlow, Vincent (Author) , Straub, Volker (Author) , Stenton, Sarah L. (Author) , Snow, Hana (Author) , Singer-Berk, Moriel (Author) , Silver, Josh (Author) , Shril, Shirlee (Author) , Seaby, Eleanor G. (Author) , Schneider, Ronen (Author) , Sankaran, Vijay G. (Author) , Sanchis-Juan, Alba (Author) , Russell, Kathryn A. (Author) , Reinson, Karit (Author) , Ravenscroft, Gianina (Author) , Radtke, Maximilian (Author) , Popp, Denny (Author) , Polster, Tilman (Author) , Platzer, Konrad (Author) , Pierce, Eric A. (Author) , Place, Emily M. (Author) , Pajusalu, Sander (Author) , Pais, Lynn (Author) , Õunap, Katrin (Author) , Osei-Owusu, Ikeoluwa (Author) , Opperman, Henry (Author) , Okur, Volkan (Author) , Oja, Kaisa Teele (Author) , O’Leary, Melanie (Author) , O’Heir, Emily (Author) , Morel, Chantal F. (Author) , Merkenschlager, Andreas (Author) , Marchant, Rhett G. (Author) , Mangilog, Brian E. (Author) , Madden, Jill A. (Author) , MacArthur, Daniel (Author) , Lovgren, Alysia (Author) , Lerner-Ellis, Jordan P. (Author) , Lin, Jasmine (Author) , Laing, Nigel (Author) , Hildebrandt, Friedhelm (Author) , Hentschel, Julia (Author) , Groopman, Emily (Author) , Goodrich, Julia (Author) , Gleeson, Joseph G. (Author) , Ghaoui, Roula (Author) , Genetti, Casie A. (Author) , Gburek-Augustat, Janina (Author) , Gazda, Hanna T. (Author) , Ganesh, Vijay S. (Author) , Ganapathi, Mythily (Author) , Gallacher, Lyndon (Author) , Fu, Jack M. (Author) , Evangelista, Emily (Author) , England, Eleina (Author) , Donkervoort, Sandra (Author) , DiTroia, Stephanie (Author) , Cooper, Sandra T. (Author) , Chung, Wendy K. (Author) , Christodoulou, John (Author) , Chao, Katherine R. (Author) , Cato, Liam D. (Author) , Bujakowska, Kinga M. (Author) , Bryen, Samantha J. (Author) , Brand, Harrison (Author) , Bönnemann, Carsten G. (Author) , Beggs, Alan H. (Author) , Baxter, Samantha M. (Author) , Bartolomaeus, Tobias (Author) , Agrawal, Pankaj B. (Author) , Talkowski, Michael (Author) , Austin-Tse, Christina (Author) , Jamra, Rami Abou (Author) , Rehm, Heidi L. (Author) , O’Donnell-Luria, Anne (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  14. 14
    Cover Image

    The association of COVID-19 pandemic with the increase of sinogenic and otogenic intracranial infections in children: a 10-year retrospective comparative single-center study by Issa, Mohammed (Author) , Kalliri, Vasiliki (Author) , Euteneuer, Sara (Author) , Krümpelmann, Arne (Author) , Seitz, Angelika (Author) , Sommerburg, Olaf (Author) , Westhoff, Jens (Author) , Syrbe, Steffen (Author) , Lenga, Pavlina (Author) , Grutza, Martin (Author) , Scherer, Moritz (Author) , Neumann, Jan-Oliver (Author) , Baumann, Ingo (Author) , Unterberg, Andreas (Author) , El Damaty, Ahmed (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  15. 15
    Cover Image

    Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants by Wortmann, Saskia B. (Author) , Feichtinger, Rene G. (Author) , Abela, Lucia (Author) , van Gemert, Loes A. (Author) , Aubart, Mélodie (Author) , Dufeu-Berat, Claire-Marine (Author) , Boddaert, Nathalie (Author) , de Coo, Rene (Author) , Stühn, Lara (Author) , Hebbink, Jasmijn (Author) , Heinritz, Wolfram (Author) , Hildebrandt, Julia (Author) , Himmelreich, Nastassja (Author) , Korenke, Christoph (Author) , Lehman, Anna (Author) , Leyland, Thomas (Author) , Makowski, Christine (Author) , Martinez Marin, Rafael Jenaro (Author) , Marzin, Pauline (Author) , Mühlhausen, Chris (Author) , Rio, Marlène (Author) , Rotig, Agnes (Author) , Roux, Charles-Joris (Author) , Schiff, Manuel (Author) , Haack, Tobias B. (Author) , Syrbe, Steffen (Author) , Zylicz, Stas A. (Author) , Thiel, Christian (Author) , Veiga da Cunha, Maria (Author) , van Schaftingen, Emile (Author) , Wagner, Matias (Author) , Mayr, Johannes A. (Author) , Wevers, Ron A. (Author) , Boltshauser, Eugen (Author) , Willemsen, Michel A. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  16. 16
    Cover Image

    Vitamin B12 deficiency newborn screening by Mütze, Ulrike (Author) , Gleich, Florian (Author) , Haas, Dorothea (Author) , Urschitz, Michael S. (Author) , Röschinger, Wulf (Author) , Janzen, Nils (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Syrbe, Steffen (Author) , Kölker, Stefan (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  17. 17
    Cover Image

    aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by Schröter, Julian (Author) , Dattner, Tal (Author) , Hüllein, Jennifer (Author) , Jayme, Alejandra (Author) , Heuveline, Vincent (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Lenz, Dominic (Author) , Opladen, Thomas (Author) , Popp, Bernt (Author) , Schaaf, Christian P. (Author) , Staufner, Christian (Author) , Syrbe, Steffen (Author) , Uhrig, Sebastian (Author) , Hübschmann, Daniel (Author) , Brennenstuhl, Heiko (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  18. 18
    Cover Image

    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany by Maltseva, Margarita (Author) , Schubert-Bast, Susanne (Author) , Zöllner, Johann Philipp (Author) , Bast, Thomas (Author) , Mayer, Thomas (Author) , von Spiczak, Sarah (Author) , Ruf, Susanne (Author) , Trollmann, Regina (Author) , Wolff, Markus (Author) , Hornemann, Frauke (Author) , Klotz, Kerstin A. (Author) , Jacobs-LeVan, Julia (Author) , Kurlemann, Gerhard (Author) , Neubauer, Bernd A. (Author) , Polster, Tilman (Author) , Syrbe, Steffen (Author) , Bertsche, Astrid (Author) , Bettendorf, Ulrich (Author) , Kluger, Gerhard (Author) , Flege, Silke (Author) , Rosenow, Felix (Author) , Kay, Lara (Author) , Strzelczyk, Adam (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  19. 19
    Cover Image

    Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 by Thalwitzer, Kim M. (Author) , Driedger, Jan Henje (Author) , Xian, Julie (Author) , Saffari, Afshin (Author) , Zacher, Pia (Author) , Bölsterli, Bigna K. (Author) , McKeown Ruggiero, Sarah (Author) , Sullivan, Katie Rose (Author) , Datta, Alexandre N. (Author) , Kellinghaus, Christoph (Author) , Althaus, Jürgen (Author) , Wiemer-Kruel, Adelheid (Author) , van Baalen, Andreas (Author) , Pampel, Armin (Author) , Alber, Michael (Author) , Braakman, Hilde M. H. (Author) , Debus, Otfried Martin (Author) , Denecke, Jonas (Author) , Hobbiebrunken, Elke (Author) , Breitweg, Ina (Author) , Diehl, Danielle (Author) , Eitel, Hans Christian (Author) , Gburek-Augustat, Janina (Author) , Preisel, Martin (Author) , Schlump, Jan-Ulrich (Author) , Laufs, Mirjam (Author) , Mammadova, Dilbar (Author) , Wurst, Carsten (Author) , Prager, Christine (Author) , Löhr-Nilles, Christa (Author) , Martin, Peter (Author) , Garbade, Sven (Author) , Platzer, Konrad (Author) , Benkel-Herrenbrueck, Ira (Author) , Egler, Kerstin (Author) , Fazeli, Walid (Author) , Lemke, Johannes R. (Author) , Runkel, Eva (Author) , Klein, Barbara (Author) , Linden, Tobias (Author) , Schröter, Julian (Author) , Steffeck, Heike (Author) , Thies, Bastian (Author) , Deimling, Florian von (Author) , Illsinger, Sabine (Author) , Borggräfe, Ingo (Author) , Classen, Georg (Author) , Wieczorek, Dagmar (Author) , Ramantani, Georgia (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Ries, Markus (Author) , Helbig, Ingo (Author) , Syrbe, Steffen (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  20. 20
    Cover Image

    Delineating clinical and developmental outcomes in STXBP1-related disorders by Xian, Julie (Author) , Thalwitzer, Kim M. (Author) , McKee, Jillian (Author) , Sullivan, Katie Rose (Author) , Brimble, Elise (Author) , Fitch, Eryn (Author) , Toib, Jonathan (Author) , Kaufman, Michael C (Author) , deCampo, Danielle (Author) , Cunningham, Kristin (Author) , Pierce, Samuel R (Author) , Goss, James (Author) , Rigby, Charlene Son (Author) , Syrbe, Steffen (Author) , Boland, Mike (Author) , Prosser, Benjamin (Author) , Fitter, Nasha (Author) , Ruggiero, Sarah M (Author) , Helbig, Ingo (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: