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Publication
PropertyValue
Working Groups AG Wollnik
SubprojectD02
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedUnknown
PMIDPubMed ID 34172529
DOIDOI 10.1136/jmedgenet-2021-107769
Publication Year2021
TitleLoss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
JournalJournal of Medical Genetics
ISSN0022-2593
eISSN1468-6244
URL http://dx.doi.org/10.1136/jmedgenet-2021-107769
Pagesjmedgenet-2021-107769
Journal AbbreviationJ Med Genet
AuthorsYigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K
First AuthorYigit G
Last AuthorBrockmann K

 External Resources

 jmg.bmj....107769  Article fulltext

 gro-2/87729  GRO.publications identifier

 9606  NCBI Taxonomy (Homo sapiens, human)

 0000-0002-3623-8016  ORCID identifier (Ruth Sheffer)

 0000-0003-4372-1521  ORCID identifier (Janine Altmüller)

 0000-0002-7228-428X  ORCID identifier (Peter Nürnberg)

 0000-0003-2577-9711  ORCID identifier (Silke Kaulfuß)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 0000-0001-6823-9091  ORCID identifier (Knut Brockmann)

 021ft0n22  ROR identifier (021ft0n22, Universitätsmedizin Göttingen)

 01cqmqj90  ROR identifier (01cqmqj90, Hadassah Medical Center)

 04zjvnp94  ROR identifier (04zjvnp94, Clalit Health Services)

 00dzfx204  ROR identifier (00dzfx204, Bilecik University)

 05mxhda18  ROR identifier (05mxhda18, University Hospital Cologne)

 01y9bpm73  ROR identifier (01y9bpm73, University of Göttingen)

 311  Published Data Registry entry (MBExC)