Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters ; volume:18 ; number:1 ; day:2 ; month:10 ; year:2017 ; pages:1-5 ; date:12.2017
BMC medical genetics ; 18, Heft 1 (2.10.2017), 1-5, 12.2017
- Creator
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Arnadottir, Gudny A.
- Contributor
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Jensson, Brynjar O.
Marelsson, Sigurdur E.
Sulem, Gerald
Oddsson, Asmundur
Kristjansson, Ragnar P.
Benonisdottir, Stefania
Gudjonsson, Sigurjon A.
Masson, Gisli
Thorisson, Gudmundur A.
Saemundsdottir, Jona
Magnusson, Olafur Th
Jonasdottir, Adalbjorg
Jonasdottir, Aslaug
Sigurd̄sson, Ásgeir
Gudbjartsson, Daniel F.
Thorsteinsdottir, Unnur
Arngrimsson, Reynir
Sulem, Patrick
Stefansson, Kari
SpringerLink (Online service)
- DOI
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10.1186/s12881-017-0466-8
- URN
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urn:nbn:de:1111-201711163464
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:22 AM CEST
Data provider
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Associated
- Arnadottir, Gudny A.
- Jensson, Brynjar O.
- Marelsson, Sigurdur E.
- Sulem, Gerald
- Oddsson, Asmundur
- Kristjansson, Ragnar P.
- Benonisdottir, Stefania
- Gudjonsson, Sigurjon A.
- Masson, Gisli
- Thorisson, Gudmundur A.
- Saemundsdottir, Jona
- Magnusson, Olafur Th
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sigurd̄sson, Ásgeir
- Gudbjartsson, Daniel F.
- Thorsteinsdottir, Unnur
- Arngrimsson, Reynir
- Sulem, Patrick
- Stefansson, Kari
- SpringerLink (Online service)
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SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
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