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Page 1
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Bockenhauer D, et al. Among authors: hubank m. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, Voinescu C, Patel N, Pearce K, Hubank M, Stephens HA, Laundy V, Padmanabhan S, Zawadzka A, Hofstra JM, Coenen MJ, den Heijer M, Kiemeney LA, Bacq-Daian D, Stengel B, Powis SH, Brenchley P, Feehally J, Rees AJ, Debiec H, Wetzels JF, Ronco P, Mathieson PW, Kleta R. Stanescu HC, et al. Among authors: hubank m. N Engl J Med. 2011 Feb 17;364(7):616-26. doi: 10.1056/NEJMoa1009742. N Engl J Med. 2011. PMID: 21323541 Free article.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. Among authors: hubank m. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
Human Coronavirus OC43 Associated with Fatal Encephalitis.
Morfopoulou S, Brown JR, Davies EG, Anderson G, Virasami A, Qasim W, Chong WK, Hubank M, Plagnol V, Desforges M, Jacques TS, Talbot PJ, Breuer J. Morfopoulou S, et al. Among authors: hubank m. N Engl J Med. 2016 Aug 4;375(5):497-8. doi: 10.1056/NEJMc1509458. N Engl J Med. 2016. PMID: 27518687 Free article. No abstract available.
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
Stone TJ, Keeley A, Virasami A, Harkness W, Tisdall M, Izquierdo Delgado E, Gutteridge A, Brooks T, Kristiansen M, Chalker J, Wilkhu L, Mifsud W, Apps J, Thom M, Hubank M, Forshew T, Cross JH, Hargrave D, Ham J, Jacques TS. Stone TJ, et al. Among authors: hubank m. Acta Neuropathol. 2018 Jan;135(1):115-129. doi: 10.1007/s00401-017-1773-z. Epub 2017 Oct 20. Acta Neuropathol. 2018. PMID: 29058119 Free PMC article.
Lineage-Independent Tumors in Bilateral Neuroblastoma.
Coorens THH, Farndon SJ, Mitchell TJ, Jain N, Lee S, Hubank M, Sebire N, Anderson J, Behjati S. Coorens THH, et al. Among authors: hubank m. N Engl J Med. 2020 Nov 5;383(19):1860-1865. doi: 10.1056/NEJMoa2000962. N Engl J Med. 2020. PMID: 33211929 Free PMC article.
Characterisation and validation of insertions and deletions in 173 patient exomes.
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E. Lescai F, et al. Among authors: hubank m. PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14. PLoS One. 2012. PMID: 23251486 Free PMC article.
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura.
Stubbs MJ, Coppo P, Cheshire C, Veyradier A, Dufek S, Levine AP, Thomas M, Patel V, Connolly JO, Hubank M, Benhamou Y, Galicier L, Poullin P, Kleta R, Gale DP, Stanescu H, Scully MA. Stubbs MJ, et al. Among authors: hubank m. Haematologica. 2022 Mar 1;107(3):574-582. doi: 10.3324/haematol.2020.274639. Haematologica. 2022. PMID: 33596643 Free PMC article.
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL, Izquierdo E, Campbell J, Koutroumanidou E, Proszek P, Jamal S, Hughes D, Yuan L, Marshall LV, Carceller F, Chisholm JC, Vaidya S, Mandeville H, Angelini P, Wasti A, Bexelius T, Thway K, Gatz SA, Clarke M, Al-Lazikani B, Barone G, Anderson J, Tweddle DA, Gonzalez D, Walker BA, Barton J, Depani S, Eze J, Ahmed SW, Moreno L, Pearson A, Shipley J, Jones C, Hargrave D, Jacques TS, Hubank M, Chesler L. George SL, et al. Among authors: hubank m. Eur J Cancer. 2019 Nov;121:224-235. doi: 10.1016/j.ejca.2019.07.027. Epub 2019 Sep 19. Eur J Cancer. 2019. PMID: 31543384 Free PMC article.
154 results