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IER3IP1 mutations cause neonatal diabetes due to impaired proinsulin trafficking.
Montaser H, Leppänen S, Vähäkangas E, Bäck N, Grace A, Eurola S, Ibrahim H, Lithovius V, Stephens SB, Barsby T, Balboa D, Saarimäki-Vire J, Otonkoski T. Montaser H, et al. Among authors: grace a. Diabetes. 2024 Oct 23:db240119. doi: 10.2337/db24-0119. Online ahead of print. Diabetes. 2024. PMID: 39441964
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R, Mauleekoonphairoj J, Mengarelli I, Bosada FM, Verkerk AO, van Duijvenboden K, Poovorawan Y, Wongcharoen W, Sutjaporn B, Wandee P, Chimparlee N, Chokesuwattanaskul R, Vongpaisarnsin K, Dangkao P, Wu CI, Tadros R, Amin AS, Lieve KVV, Postema PG, Kooyman M, Beekman L, Sahasatas D, Amnueypol M, Krittayaphong R, Prechawat S, Anannab A, Makarawate P, Ngarmukos T, Phusanti K, Veerakul G, Kingsbury Z, Newington T, Maheswari U, Ross MT, Grace A, Lambiase PD, Behr ER, Schott JJ, Redon R, Barc J, Christoffels VM, Wilde AAM, Nademanee K, Bezzina CR, Khongphatthanayothin A. Walsh R, et al. Among authors: grace a. Circulation. 2025 Jan 7;151(1):31-44. doi: 10.1161/CIRCULATIONAHA.124.069041. Epub 2024 Oct 11. Circulation. 2025. PMID: 39391988 Free PMC article.
Impact of early continuous positive airway pressure in the delivery room (DR-CPAP) on neonates < 1500 g in a low-resource setting: a protocol for a pilot feasibility and acceptability randomized controlled trial.
Burgoine K, Ssenkusu JM, Nakiyemba A, Okello F, Napyo A, Hagmann C, Namuyonga J, Hewitt-Smith A, Martha M, Loe K, Grace A, Denis A, Wandabwa J, Olupot-Olupot P. Burgoine K, et al. Among authors: grace a. Pilot Feasibility Stud. 2024 Oct 4;10(1):126. doi: 10.1186/s40814-024-01552-x. Pilot Feasibility Stud. 2024. PMID: 39367449 Free PMC article.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F; Undiagnosed Diseases Network; Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Willim J, et al. Among authors: grace an. Nat Commun. 2024 Sep 10;15(1):7909. doi: 10.1038/s41467-024-52095-x. Nat Commun. 2024. PMID: 39256359 Free PMC article.
Burnout and quality of life among healthcare workers in central Uganda.
Kabunga A, Kigongo E, Okalo P, Udho S, Grace AA, Tumwesigye R, Akello AR, Musinguzi M, Acup W, Nabaziwa J, Shikanga EM, Namata H. Kabunga A, et al. Among authors: grace aa. PLoS One. 2024 Aug 19;19(8):e0305713. doi: 10.1371/journal.pone.0305713. eCollection 2024. PLoS One. 2024. PMID: 39159180 Free PMC article.
782 results