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Year Number of Results
2011 4
2012 8
2013 5
2014 6
2015 2
2019 1
2020 1
2021 2
2022 1
2024 0

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28 results

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Page 1
Spatio-temporal transcriptome of the human brain.
Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, Sousa AM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Z, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Sestan N. Kang HJ, et al. Nature. 2011 Oct 26;478(7370):483-9. doi: 10.1038/nature10523. Nature. 2011. PMID: 22031440 Free PMC article.
Abnormal retinal development associated with FRMD7 mutations.
Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I. Thomas MG, et al. Hum Mol Genet. 2014 Aug 1;23(15):4086-93. doi: 10.1093/hmg/ddu122. Epub 2014 Mar 31. Hum Mol Genet. 2014. PMID: 24688117 Free PMC article.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. Webb EA, et al. Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10. Brain. 2013. PMID: 24022475 Free PMC article.
Respiratory chain deficiency in aged spinal motor neurons.
Rygiel KA, Grady JP, Turnbull DM. Rygiel KA, et al. Neurobiol Aging. 2014 Oct;35(10):2230-8. doi: 10.1016/j.neurobiolaging.2014.02.027. Epub 2014 Mar 3. Neurobiol Aging. 2014. PMID: 24684792 Free PMC article.
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Kelberman D, et al. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9. Hum Mol Genet. 2014. PMID: 24412933 Free PMC article.
Methylomic trajectories across human fetal brain development.
Spiers H, Hannon E, Schalkwyk LC, Smith R, Wong CC, O'Donovan MC, Bray NJ, Mill J. Spiers H, et al. Genome Res. 2015 Mar;25(3):338-52. doi: 10.1101/gr.180273.114. Epub 2015 Feb 3. Genome Res. 2015. PMID: 25650246 Free PMC article.
28 results