| 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 |
External Resources
scienced...in.pdfhttps://www.sciencedirect.com/science/article/pii/S1769721221001762/pdfft?md5=9b454672bcc59b9084e1d4d7b6334235&pid=1-s2.0-S1769721221001762-main.pdf Article fulltext
2/89191https://publications.goettingen-research-online.de/handle/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)
00excyz84https://ror.org/00excyz84 ROR identifier (00excyz84, Eastern Mediterranean University)
02na8dn90https://ror.org/02na8dn90 ROR identifier (02na8dn90, Essen University Hospital)
02kswqa67https://ror.org/02kswqa67 ROR identifier (02kswqa67, Marmara University)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
01eezs655https://ror.org/01eezs655 ROR identifier (01eezs655, University of Regensburg)
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