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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: smith j. Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708. Hum Mutat. 2008. PMID: 18381613
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: smith j. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Dexmedetomidine in the ICU for Extreme Aggression in a Child with Catatonia.
Warn S, Hwang B, Smith J. Warn S, et al. Among authors: smith j. J Acad Consult Liaison Psychiatry. 2025 Jan 2:S2667-2960(24)00141-1. doi: 10.1016/j.jaclp.2024.12.006. Online ahead of print. J Acad Consult Liaison Psychiatry. 2025. PMID: 39755254 No abstract available.
The Adelaide Score: prospective implementation of an artificial intelligence system to improve hospital and cost efficiency.
Kovoor JG, Stretton B, Gupta AK, Beath A, Jacob MO, Kefalianos JM, Carmichael GJ, Zaka A, O'Callaghan G, Satheakeerthy S, Booth A, Delloso T, Hugh TJ, Chan WO, Maddern GJ, Balan-Vnuk E, Cusack M, Gilbert T, Maddison J, Bacchi S; Adelaide Score Advisory Group. Kovoor JG, et al. ANZ J Surg. 2025 Jan 3. doi: 10.1111/ans.19383. Online ahead of print. ANZ J Surg. 2025. PMID: 39754371
Circadian clock communication during homeostasis and ageing.
Mortimer T, Smith JG, Muñoz-Cánoves P, Benitah SA. Mortimer T, et al. Among authors: smith jg. Nat Rev Mol Cell Biol. 2025 Jan 3. doi: 10.1038/s41580-024-00802-3. Online ahead of print. Nat Rev Mol Cell Biol. 2025. PMID: 39753699 Review.
Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.
Aad G, Aakvaag E, Abbott B, Abdelhameed S, Abeling K, Abicht NJ, Abidi SH, Aboelela M, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Ackermann A, 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, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, 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, Alsolami ZMK, 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, Amini B, Amirie KJ, Amor Dos Santos SP, Amos KR, An S, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Anderson AC, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Antipov E, Antonelli M, … See abstract for full author list ➔ Aad G, et al. Among authors: smith jl. Phys Rev Lett. 2024 Dec 20;133(25):252301. doi: 10.1103/PhysRevLett.133.252301. Phys Rev Lett. 2024. PMID: 39752696
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