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  1. 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

  2. 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

  6. van der Schaaf, Irene C.; Brilstra, Eva H.; Buskens, Eric; Rinkel, Gabriël J.E.

    Endovascular Treatment of Aneurysms in the Cavernous Sinus : A Systematic Review on Balloon Occlusion of the Parent Vessel and Embolization With Coils : A Systematic Review on Balloon Occlusion of the Parent Vessel and Embolization With Coils

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    Ovid Technologies (Wolters Kluwer Health), 2002

    Published in: Stroke

  8. Cornelis, Candice; Dondorp, Wybo; Bolt, Ineke; de Wert, Guido; van Summeren, Marieke; Brilstra, Eva; Knoers, Nine; Bredenoord, Annelien L.

    Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay

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    Springer Science and Business Media LLC, 2023

    Published in: BMC Medical Ethics

  20. de Boer, Eva M. J.; van Rheenen, Wouter; Goedee, H. Stephan; Kamsteeg, Erik-Jan; Brilstra, Eva H.; Veldink, Jan H.; van Den Berg, Leonard H.; van Es, Michael A.

    Genotype-phenotype correlations of KIF5A stalk domain variants

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    Informa UK Limited, 2021

    Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration