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Year Number of Results
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PubMed for id: 347240

27 results

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Page 1
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Reilly ML, et al. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19. J Bone Miner Res. 2022. PMID: 35748595 Free PMC article.
Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Cortini F, Fumagalli G, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D. Venturelli E, et al. Neurosci Lett. 2010 Oct 4;482(3):240-4. doi: 10.1016/j.neulet.2010.07.047. Epub 2010 Jul 27. Neurosci Lett. 2010. PMID: 20670673
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
O'Neill AC, Uzbas F, Antognolli G, Merino F, Draganova K, Jäck A, Zhang S, Pedini G, Schessner JP, Cramer K, Schepers A, Metzger F, Esgleas M, Smialowski P, Guerrini R, Falk S, Feederle R, Freytag S, Wang Z, Bahlo M, Jungmann R, Bagni C, Borner GHH, Robertson SP, Hauck SM, Götz M. O'Neill AC, et al. Science. 2022 Jun 17;376(6599):eabf9088. doi: 10.1126/science.abf9088. Epub 2022 Jun 17. Science. 2022. PMID: 35709258
27 results