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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.
784 results