| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
RA1.2 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| 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....ds=yeshttps://jmg.bmj.com/content/jmedgenet/early/2021/06/25/jmedgenet-2021-107769.full.pdf?with-ds=yes Article fulltext
2/87729https://publications.goettingen-research-online.de/handle/2/87729 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0002-7515-8596https://orcid.org/0000-0002-7515-8596 ORCID identifier (Kathrin Brockmann)
396https://sfb1002.med.uni-goettingen.de/production/literature/publications/396 Published Data Registry entry (CRC 1002)
00dzfx204https://ror.org/00dzfx204 ROR identifier (00dzfx204, Bilecik University)
04zjvnp94https://ror.org/04zjvnp94 ROR identifier (04zjvnp94, Clalit Health Services)
01cqmqj90https://ror.org/01cqmqj90 ROR identifier (01cqmqj90, Hadassah Medical Centerg)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
05mxhda18https://ror.org/05mxhda18 ROR identifier (05mxhda18, University Hospital Cologne)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
SCR_010917https://scicrunch.org/resolver/SCR_010917 SciCrunch identifier (RRID:SCR_010917, Agilent CytoGenomics)
SCR_014963https://scicrunch.org/resolver/SCR_014963 SciCrunch identifier (RRID:SCR_014963, Agilent Feature Extraction Software)
mbexc.de...state/https://mbexc.de/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-biallelic-state/ Website entry (mbexc.de)