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Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: leal sm. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. PMID: 39417135 Free PMC article. Preprint.
Guide to Utilization of the Microbiology Laboratory for Diagnosis of Infectious Diseases: 2024 Update by the Infectious Diseases Society of America (IDSA) and the American Society for Microbiology (ASM).
Miller JM, Binnicker MJ, Campbell S, Carroll KC, Chapin KC, Gonzalez MD, Harrington A, Jerris RC, Kehl SC, Leal SM Jr, Patel R, Pritt BS, Richter SS, Robinson-Dunn B, Snyder JW, Telford S 3rd, Theel ES, Thomson RB Jr, Weinstein MP, Yao JD. Miller JM, et al. Among authors: leal sm jr. Clin Infect Dis. 2024 Mar 5:ciae104. doi: 10.1093/cid/ciae104. Online ahead of print. Clin Infect Dis. 2024. PMID: 38442248
Reply to Kidd et al., "Inconsistencies within the proposed framework for stabilizing fungal nomenclature risk further confusion".
de Hoog S, Walsh TJ, Ahmed SA, Alastruey-Izquierdo A, Alexander BD, Arendrup MC, Babady E, Bai F-Y, Balada-Llasat J-M, Borman A, Chowdhary A, Clark A, Colgrove RC, Cornely OA, Dingle TC, Dufresne PJ, Fuller J, Gangneux J-P, Gibas C, Glasgow H, Graser Y, Guillot J, Groll AH, Haase G, Hanson K, Harrington A, Hawksworth DL, Hayden RT, Hoenigl M, Hubka V, Johnson K, Kus JV, Li R, Meis JF, Lackner M, Lanternier F, Leal SM Jr, Lee F, Lockhart SR, Luethy P, Martin I, Kwon-Chung KJ, Meyer W, Nguyen MH, Ostrosky-Zeichner L, Palavecino E, Pancholi P, Pappas PG, Procop GW, Redhead SA, Rhoads DD, Riedel S, Stevens B, Sullivan KO, Vergidis P, Roilides E, Seyedmousavi A, Tao L, Vicente VA, Vitale RG, Wang Q-M, Wengenack NL, Westblade L, Wiederhold N, White L, Wojewoda CM, Zhang SX. de Hoog S, et al. Among authors: leal sm jr. J Clin Microbiol. 2024 Apr 10;62(4):e0162523. doi: 10.1128/jcm.01625-23. Epub 2024 Mar 5. J Clin Microbiol. 2024. PMID: 38441056 Free PMC article. No abstract available.
Tau and Aβ42 in lavage fluid of pneumonia patients are associated with end-organ dysfunction: A prospective exploratory study.
Renema P, Pittet JF, Brandon AP, Leal SM Jr, Gu S, Promer G, Hackney A, Braswell P, Pickering A, Rafield G, Voth S, Balczon R, Lin MT, Morrow KA, Bell J, Audia JP, Alvarez D, Stevens T, Wagener BM. Renema P, et al. Among authors: leal sm jr. PLoS One. 2024 Feb 23;19(2):e0298816. doi: 10.1371/journal.pone.0298816. eCollection 2024. PLoS One. 2024. PMID: 38394060 Free PMC article.
COVID-19 Causes Ciliary Dysfunction as Demonstrated by Human Intranasal Micro-Optical Coherence Tomography Imaging.
Vijaykumar K, Leung HM, Barrios A, Fernandez-Petty CM, Solomon GM, Hathorne HY, Wade JD, Monroe K, Slaten KB, Li Q, Leal SM Jr, Moates DB, Pierce HM, Olson KR, Currier P, Foster S, Marsden D, Tearney GJ, Rowe SM. Vijaykumar K, et al. Among authors: leal sm jr. Am J Respir Cell Mol Biol. 2023 Nov;69(5):592-595. doi: 10.1165/rcmb.2023-0177LE. Am J Respir Cell Mol Biol. 2023. PMID: 38195114 Free PMC article. No abstract available.
404 results