Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1528-3658
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
-
online resource.
- Erschienen in
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes ; volume:25 ; number:1 ; day:27 ; month:2 ; year:2019 ; pages:1-15 ; date:12.2019
Molecular medicine ; 25, Heft 1 (27.2.2019), 1-15, 12.2019
- Urheber
-
Begemann, Anaïs
Acuña, Mario A.
Zweier, Markus
Vincent, Marie
Steindl, Katharina
Bachmann-Gagescu, Ruxandra
Hackenberg, Annette Marie
Abela, Lucia
Plecko, Barbara
Kroell-Seger, Judith
Baumer, Alessandra
Yamakawa, Kazuhiro
Inoue, Yushi
Asadollahi, Reza
Sticht, Heinrich
Zeilhofer, Hanns Ulrich
Rauch, Anita
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s10020-019-0073-6
- URN
-
urn:nbn:de:101:1-2019032415394614590161
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:48 MESZ
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Beteiligte
- Begemann, Anaïs
- Acuña, Mario A.
- Zweier, Markus
- Vincent, Marie
- Steindl, Katharina
- Bachmann-Gagescu, Ruxandra
- Hackenberg, Annette Marie
- Abela, Lucia
- Plecko, Barbara
- Kroell-Seger, Judith
- Baumer, Alessandra
- Yamakawa, Kazuhiro
- Inoue, Yushi
- Asadollahi, Reza
- Sticht, Heinrich
- Zeilhofer, Hanns Ulrich
- Rauch, Anita
- SpringerLink (Online service)
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
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A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family