| Property | Value |
|---|
| Working Groups |  RG Wollnik |
| Subproject | None |
| Open Access | No |
| Publication Type | Journal Article |
| Peer Reviewed | Yes |
| PMID |  34400370 |
| DOI |  10.1016/j.ejmg.2021.104310 |
| Publication Year | 2021 |
| Title | MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease  |
| Journal | European Journal of Medical Genetics |
| ISSN | 1769-7212 |
| eISSN | 1878-0849 |
| URL | http://dx.doi.org/10.1016/j.ejmg.2021.104310 |
| Pages | 104310 |
| Journal Abbreviation | Eur J Med Genet |
| Authors | Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A |
| First Author | Khuller K |
| Last Author | Kuechler A |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
scienced...in.pdfhttps://www.sciencedirect.com/science/article/pii/S1769721221001762/pdfft?md5=9b454672bcc59b9084e1d4d7b6334235&pid=1-s2.0-S1769721221001762-main.pdf
Article fulltext
gro-2/89191http://resolver.sub.uni-goettingen.de/purl?gro-2/89191
GRO.publications identifier
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)
1/366https://mbexc.uni-goettingen.de/archive/1/366
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)
goeseek.gwdguser.de/studies/135https://goeseek.gwdguser.de/studies/135
Supplemental material (goeseek study)
ars.els-...1.xlsxhttps://ars.els-cdn.com/content/image/1-s2.0-S1769721221001762-mmc1.xlsx
Supplemental material (table)
mbexc.de...sease/https://mbexc.de/mfsd2a-associated-primary-microcephaly-expanding-the-clinical-and-mutational-spectrum-of-this-ultra-rare-disease/
Website entry (mbexc.de)
Q110764709https://www.wikidata.org/wiki/Q110764709
Wikidata ID
