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Page 1
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: williams s. Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29. Hum Genet. 2012. PMID: 21800092
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: williams s. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
The cost-effectiveness of procalcitonin for guiding antibiotic prescribing in individuals hospitalized with COVID-19: part of the PEACH study.
Webb EJD, Howdon D, Bestwick R, King N, Sandoe JAT, Euden J, Grozeva D, West R, Howard P, Powell N, Albur M, Bond S, Brookes-Howell L, Dark P, Hellyer T, Llewelyn M, McCullagh IJ, Ogden M, Pallmann P, Parsons H, Partridge D, Shaw D, Szakmany T, Todd S, Thomas-Jones E, Carrol ED, Shinkins B; PEACH Study Group. Webb EJD, et al. J Antimicrob Chemother. 2024 Jun 6:dkae167. doi: 10.1093/jac/dkae167. Online ahead of print. J Antimicrob Chemother. 2024. PMID: 38842487
High-throughput mass spectrometry maps the sepsis plasma proteome and differences in patient response.
Mi Y, Burnham KL, Charles PD, Heilig R, Vendrell I, Whalley J, Torrance HD, Antcliffe DB, May SM, Neville MJ, Berridge G, Hutton P, Geoghegan CG, Radhakrishnan J, Nesvizhskii AI, Yu F; GAinS Investigators; Davenport EE, McKechnie S, Davies R, O'Callaghan DJP, Patel P, Del Arroyo AG, Karpe F, Gordon AC, Ackland GL, Hinds CJ, Fischer R, Knight JC. Mi Y, et al. Sci Transl Med. 2024 Jun 5;16(750):eadh0185. doi: 10.1126/scitranslmed.adh0185. Epub 2024 Jun 5. Sci Transl Med. 2024. PMID: 38838133
The FRESHAIR4Life study: Global implementation research on non-communicable disease prevention targeting adolescents' exposure to tobacco and air pollution in disadvantaged populations.
Hoffman CM, Versluis A, Chirila S, Kirenga BJ, Khan A, Saeed S, Sooronbaev T, Tsiligianni I, Arvind DK, Bauld LC, van den Brand FA, Chavannes NH, Pinnock H, Powell PD, van der Schans J, Siddiqi K, Williams S, van der Kleij MJJR. Hoffman CM, et al. Among authors: williams s. NPJ Prim Care Respir Med. 2024 Jun 4;34(1):14. doi: 10.1038/s41533-024-00367-w. NPJ Prim Care Respir Med. 2024. PMID: 38834570 Free PMC article. Review.
Azimuthal Angle Correlations of Muons Produced via Heavy-Flavor Decays in 5.02 TeV Pb+Pb and pp Collisions with the ATLAS Detector.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Adam Bourdarios C, Adamczyk L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Aktas S, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Alegria ZL, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amor Dos Santos SP, Amos KR, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bella L, A… See abstract for full author list ➔ Aad G, et al. Among authors: williams s. Phys Rev Lett. 2024 May 17;132(20):202301. doi: 10.1103/PhysRevLett.132.202301. Phys Rev Lett. 2024. PMID: 38829073
Results of a feasibility and initial efficacy clinical trial of a high-intensity interval training program using adaptive equipment in persons with multiple sclerosis who have walking disability.
Silveira SL, Motl RW, Elmer DJ, Botkin T, Ontiveros T, Williams S, Hubbard EA. Silveira SL, et al. Among authors: williams s. Mult Scler Relat Disord. 2024 May 24;87:105695. doi: 10.1016/j.msard.2024.105695. Online ahead of print. Mult Scler Relat Disord. 2024. PMID: 38820697
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