Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
| Title: | Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP |
|---|---|
| Authors: | MacKenzie, Katherine; de Graaf, Bianca; Syrimis, A; Zhao, Yuying; Brosens, Erwin; Verheijen - Mancini, Grazia; Schot, Rachel; Halley, Dicky; Wilke, Martina; Vøllo, A; Flinter, F; Green, A; Mansour, S; Pilch, J; Stark, Z; Zamba-Papanicolaou, E; Christophidou-Anastasiadou, V; Hofstra, Robert; Jongbloed, JD; Nicolaou, N; Tanteles, GA; Brooks, Alice; Alves, Maria |
| Source: | MacKenzie, K, de Graaf, B, Syrimis, A, Zhao, Y, Brosens, E, Verheijen - Mancini, G, Schot, R, Halley, D, Wilke, M, Vøllo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, R, Jongbloed, JD, Nicolaou, N, Tanteles, GA, Brooks, A & Alves, M 2020, 'Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP', Human Mutation, vol. 41, no. 11, pp. 1906-1917. https://doi.org/10.1002/humu.24097 |
| Publication Year: | 2020 |
| Subject Terms: | /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01 |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | English |
| ISSN: | 1059-7794; 1098-1004 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/32939943; info:eu-repo/semantics/altIdentifier/pissn/1059-7794; info:eu-repo/semantics/altIdentifier/eissn/1098-1004 |
| DOI: | 10.1002/humu.24097 |
| Availability: | https://pure.eur.nl/en/publications/da59aff7-26ab-44b4-a019-1afe7e50a8c3; https://doi.org/10.1002/humu.24097; https://pure.eur.nl/ws/files/48407593/Repub_133815_O-A.pdf; https://hdl.handle.net/1765/133815 |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.36D2FFC2 |
| Database: | BASE |