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Items: 1 to 20 of 199

1.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 Jan 14. doi: 10.1038/s41436-018-0413-x. [Epub ahead of print]

PMID:
30643220
2.

Development process of a consensus-driven CONSORT extension for randomised trials using an adaptive design.

Dimairo M, Coates E, Pallmann P, Todd S, Julious SA, Jaki T, Wason J, Mander AP, Weir CJ, Koenig F, Walton MK, Biggs K, Nicholl J, Hamasaki T, Proschan MA, Scott JA, Ando Y, Hind D, Altman DG.

BMC Med. 2018 Nov 16;16(1):210. doi: 10.1186/s12916-018-1196-2.

3.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0290-3. [Epub ahead of print] Erratum in: Genet Med. 2019 Jan 14;:.

PMID:
30245510
4.

Closing five Emergency Departments in England between 2009 and 2011: the closED controlled interrupted time-series analysis.

Knowles E, Shephard N, Stone T, Bishop-Edwards L, Hirst E, Abouzeid L, Mason S, Nicholl J.

Southampton (UK): NIHR Journals Library; 2018 Jul.

5.

Characterising non-urgent users of the emergency department (ED): A retrospective analysis of routine ED data.

O'Keeffe C, Mason S, Jacques R, Nicholl J.

PLoS One. 2018 Feb 23;13(2):e0192855. doi: 10.1371/journal.pone.0192855. eCollection 2018.

6.

Navigation delivery models and roles of navigators in primary care: a scoping literature review.

Carter N, Valaitis RK, Lam A, Feather J, Nicholl J, Cleghorn L.

BMC Health Serv Res. 2018 Feb 8;18(1):96. doi: 10.1186/s12913-018-2889-0. Review.

7.

Benefits and challenges of using the cohort multiple randomised controlled trial design for testing an intervention for depression.

Viksveen P, Relton C, Nicholl J.

Trials. 2017 Jul 6;18(1):308. doi: 10.1186/s13063-017-2059-4.

8.
9.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.

Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006.

10.

Support and Assessment for Fall Emergency Referrals (SAFER) 2: a cluster randomised trial and systematic review of clinical effectiveness and cost-effectiveness of new protocols for emergency ambulance paramedics to assess older people following a fall with referral to community-based care when appropriate.

Snooks HA, Anthony R, Chatters R, Dale J, Fothergill R, Gaze S, Halter M, Humphreys I, Koniotou M, Logan P, Lyons R, Mason S, Nicholl J, Peconi J, Phillips C, Phillips J, Porter A, Siriwardena AN, Smith G, Toghill A, Wani M, Watkins A, Whitfield R, Wilson L, Russell IT.

Health Technol Assess. 2017 Mar;21(13):1-218. doi: 10.3310/hta21130.

11.

Paramedic Assessment of Older Adults After Falls, Including Community Care Referral Pathway: Cluster Randomized Trial.

Snooks HA, Anthony R, Chatters R, Dale J, Fothergill RT, Gaze S, Halter M, Humphreys I, Koniotou M, Logan P, Lyons RA, Mason S, Nicholl J, Peconi J, Phillips C, Porter A, Siriwardena AN, Wani M, Watkins A, Wilson L, Russell IT.

Ann Emerg Med. 2017 Oct;70(4):495-505.e28. doi: 10.1016/j.annemergmed.2017.01.006. Epub 2017 Mar 13.

12.

Implementation and maintenance of patient navigation programs linking primary care with community-based health and social services: a scoping literature review.

Valaitis RK, Carter N, Lam A, Nicholl J, Feather J, Cleghorn L.

BMC Health Serv Res. 2017 Feb 6;17(1):116. doi: 10.1186/s12913-017-2046-1. Review.

13.

An evidence-based approach to the use of telehealth in long-term health conditions: development of an intervention and evaluation through pragmatic randomised controlled trials in patients with depression or raised cardiovascular risk.

Salisbury C, O’Cathain A, Thomas C, Edwards L, Montgomery AA, Hollinghurst S, Large S, Nicholl J, Pope C, Rogers A, Lewis G, Fahey T, Yardley L, Brownsell S, Dixon P, Drabble S, Esmonde L, Foster A, Garner K, Gaunt D, Horspool K, Man MS, Rowsell A, Segar J.

Southampton (UK): NIHR Journals Library; 2017 Jan.

14.

Effect of a national urgent care telephone triage service on population perceptions of urgent care provision: controlled before and after study.

Knowles E, O'Cathain A, Turner J, Nicholl J.

BMJ Open. 2016 Oct 14;6(10):e011846. doi: 10.1136/bmjopen-2016-011846.

15.

Cancer Drugs Fund requires further reform.

Grieve R, Abrams K, Claxton K, Goldacre B, James N, Nicholl J, Parmar M, Parker C, Sekhon JS, Smeeth L, Spiegelhalter D, Sculpher M.

BMJ. 2016 Sep 27;354:i5090. doi: 10.1136/bmj.i5090. No abstract available.

16.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM.

Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.

17.

Telehealth for patients at high risk of cardiovascular disease: pragmatic randomised controlled trial.

Salisbury C, O'Cathain A, Thomas C, Edwards L, Gaunt D, Dixon P, Hollinghurst S, Nicholl J, Large S, Yardley L, Fahey T, Foster A, Garner K, Horspool K, Man MS, Rogers A, Pope C, Montgomery AA.

BMJ. 2016 Jun 1;353:i2647. doi: 10.1136/bmj.i2647.

18.

Effectiveness of an integrated telehealth service for patients with depression: a pragmatic randomised controlled trial of a complex intervention.

Salisbury C, O'Cathain A, Edwards L, Thomas C, Gaunt D, Hollinghurst S, Nicholl J, Large S, Yardley L, Lewis G, Foster A, Garner K, Horspool K, Man MS, Rogers A, Pope C, Dixon P, Montgomery AA.

Lancet Psychiatry. 2016 Jun;3(6):515-25. doi: 10.1016/S2215-0366(16)00083-3. Epub 2016 Apr 27.

19.

An Investigation of the Shortcomings of the CONSORT 2010 Statement for the Reporting of Group Sequential Randomised Controlled Trials: A Methodological Systematic Review.

Stevely A, Dimairo M, Todd S, Julious SA, Nicholl J, Hind D, Cooper CL.

PLoS One. 2015 Nov 3;10(11):e0141104. doi: 10.1371/journal.pone.0141104. eCollection 2015. Review.

20.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J.

Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6.

PMID:
26443594

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