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Rickets in adolescence.
Hunter GJ, Schneidau A, Hunter JV, Chapman M. Hunter GJ, et al. Among authors: hunter jv. Clin Radiol. 1984 Sep;35(5):419-21. doi: 10.1016/s0009-9260(84)80207-x. Clin Radiol. 1984. PMID: 6467832
A Preliminary DTI Tractography Study of Developmental Neuroplasticity 5-15 Years After Early Childhood Traumatic Brain Injury.
Wilde EA, Hyseni I, Lindsey HM, Faber J, McHenry JM, Bigler ED, Biekman BD, Hollowell LL, McCauley SR, Hunter JV, Ewing-Cobbs L, Aitken ME, MacLeod M, Chu ZD, Noble-Haeusslein LJ, Levin HS. Wilde EA, et al. Among authors: hunter jv. Front Neurol. 2021 Dec 23;12:734055. doi: 10.3389/fneur.2021.734055. eCollection 2021. Front Neurol. 2021. PMID: 35002913 Free PMC article.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: hunter jv. Brain. 2021 Oct 4:awab369. doi: 10.1093/brain/awab369. Online ahead of print. Brain. 2021. PMID: 34605855
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Calame DG, et al. Among authors: hunter jv. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385670
205 results