| 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)
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
