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Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. [electronic resource] by
- Hackenberg, Annette
- Baumer, Alessandra
- Sticht, Heinrich
- Schmitt, Bernhard
- Kroell-Seger, Judith
- Wille, David
- Joset, Pascal
- Papuc, Sorina
- Rauch, Anita
- Plecko, Barbara
Producer: 20151019
In:
Neuropediatrics vol. 45
Availability: No items available.
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12.
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Long-term outcome after arterial ischemic stroke in children and young adults. [electronic resource] by
- Goeggel Simonetti, Barbara
- Cavelti, Ariane
- Arnold, Marcel
- Bigi, Sandra
- Regényi, Mária
- Mattle, Heinrich P
- Gralla, Jan
- Fluss, Joel
- Weber, Peter
- Hackenberg, Annette
- Steinlin, Maja
- Fischer, Urs
Producer: 20150723
In:
Neurology vol. 84
Availability: No items available.
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Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. [electronic resource] by
- Stellacci, Emilia
- Steindl, Katharina
- Joset, Pascal
- Mercurio, Laura
- Anselmi, Massimiliano
- Cecchetti, Serena
- Gogoll, Laura
- Zweier, Markus
- Hackenberg, Annette
- Bocchinfuso, Gianfranco
- Stella, Lorenzo
- Tartaglia, Marco
- Rauch, Anita
Producer: 20190614
In:
Human mutation vol. 39
Availability: No items available.
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Feasibility, safety, and outcome of recanalization treatment in childhood stroke. [electronic resource] by
- Bigi, Sandra
- Dulcey, Andrea
- Gralla, Jan
- Bernasconi, Corrado
- Melliger, Amber
- Datta, Alexandre N
- Arnold, Marcel
- Kaesmacher, Johannes
- Fluss, Joel
- Hackenberg, Annette
- Maier, Oliver
- Weber, Johannes
- Poloni, Claudia
- Fischer, Urs
- Steinlin, Maja
Producer: 20190812
In:
Annals of neurology vol. 83
Availability: No items available.
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16.
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. [electronic resource] by
- Begemann, Anaïs
- Acuña, Mario A
- Zweier, Markus
- Vincent, Marie
- Steindl, Katharina
- Bachmann-Gagescu, Ruxandra
- Hackenberg, Annette
- Abela, Lucia
- Plecko, Barbara
- Kroell-Seger, Judith
- Baumer, Alessandra
- Yamakawa, Kazuhiro
- Inoue, Yushi
- Asadollahi, Reza
- Sticht, Heinrich
- Zeilhofer, Hanns Ulrich
- Rauch, Anita
Producer: 20190813
In:
Molecular medicine (Cambridge, Mass.) vol. 25
Availability: No items available.
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17.
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Factors affecting cognitive outcome in early pediatric stroke. [electronic resource] by
- Studer, Martina
- Boltshauser, Eugen
- Capone Mori, Andrea
- Datta, Alexandre
- Fluss, Joel
- Mercati, Danielle
- Hackenberg, Annette
- Keller, Elmar
- Maier, Oliver
- Marcoz, Jean-Pierre
- Ramelli, Gian-Paolo
- Poloni, Claudia
- Schmid, Regula
- Schmitt-Mechelke, Thomas
- Wehrli, Edith
- Heinks, Theda
- Steinlin, Maja
Producer: 20140501
In:
Neurology vol. 82
Availability: No items available.
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18.
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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. [electronic resource] by
- Romaniello, Romina
- Arrigoni, Filippo
- Panzeri, Elena
- Poretti, Andrea
- Micalizzi, Alessia
- Citterio, Andrea
- Bedeschi, Maria Francesca
- Berardinelli, Angela
- Cusmai, Raffaella
- D'Arrigo, Stefano
- Ferraris, Alessandro
- Hackenberg, Annette
- Kuechler, Alma
- Mancardi, Margherita
- Nuovo, Sara
- Oehl-Jaschkowitz, Barbara
- Rossi, Andrea
- Signorini, Sabrina
- Tüttelmann, Frank
- Wahl, Dagmar
- Hehr, Ute
- Boltshauser, Eugen
- Bassi, Maria Teresa
- Valente, Enza Maria
- Borgatti, Renato
Publication details: European radiology 12 2017
In:
European radiology vol. 27
Availability: No items available.
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19.
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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. [electronic resource] by
- Romaniello, Romina
- Arrigoni, Filippo
- Panzeri, Elena
- Poretti, Andrea
- Micalizzi, Alessia
- Citterio, Andrea
- Bedeschi, Maria Francesca
- Berardinelli, Angela
- Cusmai, Raffaella
- D'Arrigo, Stefano
- Ferraris, Alessandro
- Hackenberg, Annette
- Kuechler, Alma
- Mancardi, Margherita
- Nuovo, Sara
- Oehl-Jaschkowitz, Barbara
- Rossi, Andrea
- Signorini, Sabrina
- Tüttelmann, Frank
- Wahl, Dagmar
- Hehr, Ute
- Boltshauser, Eugen
- Bassi, Maria Teresa
- Valente, Enza Maria
- Borgatti, Renato
Producer: 20180524
In:
European radiology vol. 27
Availability: No items available.
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Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. [electronic resource] by
- Dimitrov, Bianca
- Himmelreich, Nastassja
- Hipgrave Ederveen, Agnes L
- Lüchtenborg, Christian
- Okun, Jürgen G
- Breuer, Maximilian
- Hutter, Anna-Marlen
- Carl, Matthias
- Guglielmi, Luca
- Hellwig, Andrea
- Thiemann, Kai Christian
- Jost, Markus
- Peters, Verena
- Staufner, Christian
- Hoffmann, Georg F
- Hackenberg, Annette
- Paramasivam, Nagarajan
- Wiemann, Stefan
- Eils, Roland
- Schlesner, Matthias
- Strahl, Sabine
- Brügger, Britta
- Wuhrer, Manfred
- Christoph Korenke, G
- Thiel, Christian
Producer: 20190205
In:
Molecular genetics and metabolism vol. 123
Availability: No items available.
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