Property | Value |
Working Groups | AG Wollnik |
Subproject | D02 |
Open Access | Yes |
Publication Type | Journal Article |
Peer Reviewed | Unknown |
PMID | 34172529 |
DOI | 10.1136/jmedgenet-2021-107769 |
Publication Year | 2021 |
Title | Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state |
Journal | Journal of Medical Genetics |
ISSN | 0022-2593 |
eISSN | 1468-6244 |
URL | http://dx.doi.org/10.1136/jmedgenet-2021-107769 |
Pages | jmedgenet-2021-107769 |
Journal Abbreviation | J Med Genet |
Authors | Yigit 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 Author | Yigit G |
Last Author | Brockmann K |
External Resources
jmg.bmj....107769https://jmg.bmj.com/content/early/2021/06/25/jmedgenet-2021-107769
Article fulltext
gro-2/87729http://resolver.sub.uni-goettingen.de/purl?gro-2/87729
GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
NCBI Taxonomy (Homo sapiens, human)
0000-0002-3623-8016https://orcid.org/0000-0002-3623-8016
ORCID identifier (Ruth Sheffer)
0000-0003-4372-1521https://orcid.org/0000-0003-4372-1521
ORCID identifier (Janine Altmüller)
0000-0002-7228-428Xhttps://orcid.org/0000-0002-7228-428X
ORCID identifier (Peter Nürnberg)
0000-0003-2577-9711https://orcid.org/0000-0003-2577-9711
ORCID identifier (Silke Kaulfuß)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364
ORCID identifier (Bernd Wollnik)
0000-0001-6823-9091https://orcid.org/0000-0001-6823-9091
ORCID identifier (Knut Brockmann)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, Universitätsmedizin Göttingen)
01cqmqj90https://ror.org/01cqmqj90
ROR identifier (01cqmqj90, Hadassah Medical Center)
04zjvnp94https://ror.org/04zjvnp94
ROR identifier (04zjvnp94, Clalit Health Services)
00dzfx204https://ror.org/00dzfx204
ROR identifier (00dzfx204, Bilecik University)
05mxhda18https://ror.org/05mxhda18
ROR identifier (05mxhda18, University Hospital Cologne)
01y9bpm73https://ror.org/01y9bpm73
ROR identifier (01y9bpm73, University of Göttingen)
311https://prod.mbexc.uni-goettingen.de/literature/publications/311
Published Data Registry entry (MBExC)