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  1. Ivanovski, Ivan [Author]; Djuric, Olivera [Author]; Broccoli, Serena [Author]; Caraffi, Stefano Giuseppe [Author]; Accorsi, Patrizia [Author]; Adam, Margaret P. [Author]; Avela, Kristina [Author]; Badura-Stronka, Magdalena [Author]; Bayat, Allan [Author]; Clayton-Smith, Jill [Author]; Cocco, Isabella [Author]; Cordelli, Duccio Maria [Author]; Cuturilo, Goran [Author]; Di Pisa, Veronica [Author]; Garcia, Juliette Dupont [Author]; Gastaldi, Roberto [Author]; Giordano, Lucio [Author]; Guala, Andrea [Author]; Hoei-Hansen, Christina [Author]; Inaba, Mie [Author]; Iodice, Alessandro [Author]; Nielsen, Jens Erik Klint [Author]; Kuburovic, Vladimir [Author]; Lazalde-Medina, Brissia [Author]; [...]

    Mowat-Wilson syndrome : growth charts

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    2020

    Published in: Orphanet journal of rare diseases ; Bd. 15.2020, Art.-Nr. 151, insgesamt 12 Seiten

  2. Johannesen, Katrine M. [Author]; Mitter, Diana [Author]; Janowski, Robert [Author]; Roth, Christian [Author]; Toulouse, Joseph [Author]; Poulat, Anne-Lise [Author]; Ville, Dorothee M. [Author]; Chatron, Nicolas [Author]; Brilstra, Eva [Author]; Geleijns, Karin [Author]; Born, Alfred Peter [Author]; McLean, Scott [Author]; Nugent, Kimberly [Author]; Baynam, Gareth [Author]; Poulton, Cathryn [Author]; Dreyer, Lauren [Author]; Gration, Dylan [Author]; Schulz, Solveig [Author]; Dieckmann, Andrea [Author]; Helbig, Katherine L. [Author]; Merkenschlager, Andreas [Author]; Abou Jamra, Rami [Author]; Finck, Anja [Author]; Gardella, Elena [Author]; [...]

    Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

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    2019

    Published in: Neurology. Genetics ; Bd. 5.2019, 6, Art.-Nr. e373, insgesamt 10 Seiten

  3. Baldassari, Sara [Author]; Picard, Fabienne [Author]; Verbeek, Nienke E. [Author]; Kempen, Marjan van [Author]; Brilstra, Eva H. [Author]; Lesca, Gaetan [Author]; Conti, Valerio [Author]; Guerrini, Renzo [Author]; Bisulli, Francesca [Author]; Licchetta, Laura [Author]; Pippucci, Tommaso [Author]; Tinuper, Paolo [Author]; Hirsch, Edouard [Author]; Saint Martin, Anne de [Author]; Chelly, Jamel [Author]; Rudolf, Gabrielle [Author]; Chipaux, Mathilde [Author]; Ferrand-Sorbets, Sarah [Author]; Dorfmüller, Georg [Author]; Sisodiya, Sanjay [Author]; Balestrini, Simona [Author]; Schoeler, Natasha [Author]; Hernandez-Hernandez, Laura [Author]; Krithika, Sundararaman [Author]; [...]

    The landscape of epilepsy-related GATOR1 variants

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    2019

    Published in: Genetics in medicine ; 21(2019), 2, Seite 398-408

  4. Bayat, Allan [Author]; Pendziwiat, Manuela [Author]; Obersztyn, Ewa [Author]; Goldenberg, Paula [Author]; Zacher, Pia [Author]; Driedger, Jan Henje [Author]; Syrbe, Steffen [Author]; Begtrup, Amber [Author]; Borovikov, Artem [Author]; Sharkov, Artem [Author]; Karasińska, Aneta [Author]; Giżewska, Maria [Author]; Mitchell, Wendy [Author]; Morava-Kozicz, Eva [Author]; Møller, Rikke S. [Author]; Rubboli, Guido [Author]

    Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

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    Lausanne: Frontiers Media, 11 May 2021

    Published in: Frontiers in Genetics ; 12 (2021), 663643

  5. Driedger, Jan Henje [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Møller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]

    Refining genotypes and phenotypes in KCNA2-related neurological disorders

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    10 March 2021

    Published in: International journal of molecular sciences ; 22(2021), 6, Artikel-ID 2824, Seite 1-16

  6. Driedger, Jan Henje [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, Christoph [Author]; Christoph, Maria-Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Møller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes [Author]; Syrbe, Steffen [Author]

    Refining genotypes and phenotypes in KCNA2-related neurological disorders

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    Basel: MDPI, 2021

    Published in: International journal of molecular sciences ; 22, 6 (2021), 2824

  7. Döring, Jan H. [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, G. Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Moller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes R. [Author]; Syrbe, Steffen [Author]

    Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

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    Basel: MDPI, [2024]

    Published in: International Journal of Molecular Sciences ; 22, (2021)

  8. Driedger, Jan Henje [Author]; Saffari, Afshin [Author]; Bast, Thomas [Author]; Brockmann, Knut [Author]; Ehrhardt, Laura [Author]; Fazeli, Walid [Author]; Janzarik, Wibke G. [Author]; Klabunde-Cherwon, Annick [Author]; Kluger, Gerhard [Author]; Muhle, Hiltrud [Author]; Pendziwiat, Manuela [Author]; Møller, Rikke S. [Author]; Platzer, Konrad [Author]; Santos, Joana Larupa [Author]; Schröter, Julian [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Syrbe, Steffen [Author]

    Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy

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    [October 2022]

    Published in: Neurology. Genetics ; 8(2022), 5 vom: Okt., Seite 1-11