| 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
gro-2/119231http://resolver.sub.uni-goettingen.de/purl?gro-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)
