The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: online resource.

Erschienen in: The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study ; day:14 ; month:12 ; year:2018 ; pages:1-14
European journal of human genetics ; (14.12.2018), 1-14

Urheber: Papuc, Sorina M.
Abela, Lucia
Steindl, Katharina
Begemann, Anaïs
Simmons, Thomas L.
Schmitt, Bernhard
Zweier, Markus
Oneda, Beatrice
Socher, Eileen
Crowther, Lisa M.
Wohlrab, Gabriele
Gogoll, Laura
Poms, Martin
Seiler, Michelle
Papik, Michael
Baldinger, Rosa
Baumer, Alessandra
Asadollahi, Reza
Kroell-Seger, Judith
Schmid, Regula
Iff, Tobias
Schmitt-Mechelke, Thomas
Otten, Karoline
Hackenberg, Annette Marie
Addor, Marie-Claude
Klein, Andrea
Azzarello-Burri, Silvia
Sticht, Heinrich
Joset, Pascal
Plecko, Barbara
Rauch, Anita

Beteiligte Personen und Organisationen: SpringerLink (Online service)

DOI: 10.1038/s41431-018-0299-8

URN: urn:nbn:de:101:1-2019013122040060794503

Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Letzte Aktualisierung: 14.08.2025, 10:49 MESZ

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Beteiligte

Papuc, Sorina M.
Abela, Lucia
Steindl, Katharina
Begemann, Anaïs
Simmons, Thomas L.
Schmitt, Bernhard
Zweier, Markus
Oneda, Beatrice
Socher, Eileen
Crowther, Lisa M.
Wohlrab, Gabriele
Gogoll, Laura
Poms, Martin
Seiler, Michelle
Papik, Michael
Baldinger, Rosa
Baumer, Alessandra
Asadollahi, Reza
Kroell-Seger, Judith
Schmid, Regula
Iff, Tobias
Schmitt-Mechelke, Thomas
Otten, Karoline
Hackenberg, Annette Marie
Addor, Marie-Claude
Klein, Andrea
Azzarello-Burri, Silvia
Sticht, Heinrich
Joset, Pascal
Plecko, Barbara
Rauch, Anita
SpringerLink (Online service)

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

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