| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
No |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
36576126 |
| DOI |
10.1111/cge.14290 |
| Publication Year |
2022 |
| Title |
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain |
| Journal |
Clinical Genetics |
| ISSN |
0009-9163 |
| eISSN |
1399-0004 |
| URL |
http://dx.doi.org/10.1111/cge.14290 |
| Journal Abbreviation |
Clin Genet |
| Authors |
Averdunk L, Al‐Thihli K, Surowy H, Lüdecke H, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Abou Jamra R, Al‐Maawali A, Wieczorek D |
| First Author |
Averdunk L |
| Last Author |
Wieczorek D |
External Resources
onlineli...d=truehttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14290?download=true Article fulltext
2/119231http://resolver.sub.uni-goettingen.de/purl?2/119231 GRO.publications identifier
NM_001130053.4https://www.ncbi.nlm.nih.gov/nuccore/NM_001130053.4 NCBI nucleotide (NM_001130053.4, reused)
610536https://www.omim.org/entry/610536 OMIM identifier (610536)
609306https://www.omim.org/entry/609306 OMIM identifier (609306)
616309https://www.omim.org/entry/616309 OMIM identifier (616309)
616393https://www.omim.org/entry/616393 OMIM identifier (616393)
619376https://www.omim.org/entry/619376 OMIM identifier (619376)
268305https://www.omim.org/entry/268305 OMIM identifier (268305)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198 ORCID identifier (Gökhan Yigit)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0002-1404-8887https://orcid.org/0000-0002-1404-8887 ORCID identifier (Almundher Al-Maawali)
1/213https://mbexc.uni-goettingen.de/archive/1/213 Research Data Archive (supplemental material)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
onlineli...o.docxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1111%2Fcge.14290&file=cge14290-sup-0001-Supinfo.docx Supplemental material
onlineli...S1.pnghttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1111%2Fcge.14290&file=cge14290-sup-0002-FigureS1.png Supplemental material (figure)
mbexc.de...omain/https://mbexc.de/expanding-the-spectrum-of-eef1d-neurodevelopmental-disorders-biallelic-variants-in-the-guanine-exchange-domain/ Website entry (mbexc.de)