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Items: 1 to 20 of 338


Magnetic Trapping and Coherent Control of Laser-Cooled Molecules.

Williams HJ, Caldwell L, Fitch NJ, Truppe S, Rodewald J, Hinds EA, Sauer BE, Tarbutt MR.

Phys Rev Lett. 2018 Apr 20;120(16):163201. doi: 10.1103/PhysRevLett.120.163201.


Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.

Apps JR, Carreno G, Gonzalez-Meljem JM, Haston S, Guiho R, Cooper JE, Manshaei S, Jani N, Hölsken A, Pettorini B, Beynon RJ, Simpson DM, Fraser HC, Hong Y, Hallang S, Stone TJ, Virasami A, Donson AM, Jones D, Aquilina K, Spoudeas H, Joshi AR, Grundy R, Storer LCD, Korbonits M, Hilton DA, Tossell K, Thavaraj S, Ungless MA, Gil J, Buslei R, Hankinson T, Hargrave D, Goding C, Andoniadou CL, Brogan P, Jacques TS, Williams HJ, Martinez-Barbera JP.

Acta Neuropathol. 2018 May;135(5):757-777. doi: 10.1007/s00401-018-1830-2. Epub 2018 Mar 14.


Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.

Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.


Identification of animal movement patterns using tri-axial magnetometry.

Williams HJ, Holton MD, Shepard ELC, Largey N, Norman B, Ryan PG, Duriez O, Scantlebury M, Quintana F, Magowan EA, Marks NJ, Alagaili AN, Bennett NC, Wilson RP.

Mov Ecol. 2017 Mar 27;5:6. doi: 10.1186/s40462-017-0097-x. eCollection 2017.


Pacing in congenital heart disease - A four-decade experience in a single tertiary centre.

Midha D, Chen Z, Jones DG, Williams HJ, Lascelles K, Jarman J, Clague J, Till J, Dimopoulos K, Babu-Narayan SV, Markides V, Gatzoulis MA, Wong T.

Int J Cardiol. 2017 Aug 15;241:177-181. doi: 10.1016/j.ijcard.2017.02.151. Epub 2017 Mar 6.


X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.


An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

Le Quesne Stabej P, James C, Ocaka L, Tekman M, Grunewald S, Clement E, Stanescu HC, Kleta R, Morrogh D, Calder A, Williams HJ, Bitner-Glindzicz M.

Orphanet J Rare Dis. 2017 Feb 7;12(1):24. doi: 10.1186/s13023-017-0582-8.


Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.

Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.


Congenital Paradoxical Lower Eyelid Retraction With Upgaze due to an Anomalous Extraocular Muscle.

Richardson DR, Gadzala LA, Bonsall DJ, Hogg JP, Williams HJ, Nguyen J.

Ophthalmic Plast Reconstr Surg. 2017 Jul/Aug;33(4):e101-e102. doi: 10.1097/IOP.0000000000000809.


The "butterfly" adrenal gland.

Minshew LJ, Williams HJ, DiSantis DJ.

Abdom Radiol (NY). 2017 Feb;42(2):661-662. doi: 10.1007/s00261-016-0889-2. Review. No abstract available.


Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.

Bacchelli C, Williams HJ.

Expert Rev Mol Diagn. 2016 Oct;16(10):1073-1082. Epub 2016 Aug 25. Review.


Whole-flock, metaphylactic tilmicosin failed to eliminate contagious ovine digital dermatitis and footrot in sheep: a cluster randomised trial.

Angell JW, Grove-White DH, Williams HJ, Duncan JS.

Vet Rec. 2016 Sep 24;179(12):308. doi: 10.1136/vr.103625. Epub 2016 Jul 22.


The BMJ should not tell us how to vote on Brexit.

Williams HJ.

BMJ. 2016 Jul 6;354:i3641. doi: 10.1136/bmj.i3641. No abstract available.


Questionnaire regarding skin disorders in pet and smallholder pigs.

Williams HJ, Grove-White DH, Gillespie AV.

Vet Rec. 2016 Aug 6;179(6):148. doi: 10.1136/vr.103723. Epub 2016 Jun 28. No abstract available.


Giant calvarial intraosseous angiolipoma: a case report and review of the literature.

Singh R, Josiah DT, Turner RC, Cantu-Durand DE, Williams HJ, Gyure K, Voelker JL.

J Surg Case Rep. 2016 Apr 13;2016(4). pii: rjw051. doi: 10.1093/jscr/rjw051.


Testing the limits: high-sensitivity cardiac troponin in the prediction of non-cardiac complications after major abdominal surgery.

Williams HJ, Carlton EW.

Br J Anaesth. 2016 Feb;116(2):305. doi: 10.1093/bja/aev474. No abstract available.


Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.

Carroll LS, Woolf R, Ibrahim Y, Williams HJ, Dwyer S, Walters J, Kirov G, O'Donovan MC, Owen MJ.

Psychiatr Genet. 2016 Apr;26(2):60-5. doi: 10.1097/YPG.0000000000000110.


Prying into the intimate secrets of animal lives; software beyond hardware for comprehensive annotation in 'Daily Diary' tags.

Walker JS, Jones MW, Laramee RS, Holton MD, Shepard EL, Williams HJ, Scantlebury DM, Marks NJ, Magowan EA, Maguire IE, Bidder OR, Di Virgilio A, Wilson RP.

Mov Ecol. 2015 Sep 21;3(1):29. doi: 10.1186/s40462-015-0056-3. eCollection 2015.


In search of rules behind environmental framing; the case of head pitch.

Wilson GI, Norman B, Walker J, Williams HJ, Holton MD, Clarke D, Wilson RP.

Mov Ecol. 2015 Sep 16;3(1):24. doi: 10.1186/s40462-015-0051-8. eCollection 2015.


Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.

Nat Commun. 2015 Sep 14;6:8111. doi: 10.1038/ncomms9111.

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