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Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J; Care4Rare Canada Consortium; Holcik M, Majewski J, Richer J, Boycott KM. Kernohan KD, et al. Among authors: davila j. Hum Mol Genet. 2015 Nov 15;24(22):6293-300. doi: 10.1093/hmg/ddv337. Epub 2015 Aug 24. Hum Mol Genet. 2015. PMID: 26307080 Free PMC article.
MRI features of the placenta in fetuses with and without CNS abnormalities.
Shapira-Zaltsberg G, Grynspan D, Quintana MV, Dominguez PC, Reddy D, Davila JH, Miller E. Shapira-Zaltsberg G, et al. Among authors: davila jh. Clin Radiol. 2018 Sep;73(9):836.e9-836.e15. doi: 10.1016/j.crad.2018.05.004. Epub 2018 Jun 9. Clin Radiol. 2018. PMID: 29895388
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Huang YT, Giacomini PS, Massie R, Venkateswaran S, Trudelle AM, Fadda G, Sharifian-Dorche M, Boudjani H, Poliquin-Lasnier L, Airas L, Saveriano AW, Ziller MG, Miller E, Martinez-Rios C, Wilson N, Davila J, Rush C, Longbrake EE, Longoni G, Macaron G, Bernard G, Tampieri D, Antel J, Brais B, La Piana R. Huang YT, et al. Among authors: davila j. Front Neurol. 2022 Jul 25;13:928493. doi: 10.3389/fneur.2022.928493. eCollection 2022. Front Neurol. 2022. PMID: 35959404 Free PMC article.
780 results