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Page 1
Awake Supraglottic Airway Placement in Pediatric Patients for Airway Obstruction or Difficult Intubation: Insights From an International Airway Registry (PeDI).
Longacre M, Park RS, Staffa SJ, Rowland MJ, Meserve J, Lord C, Templeton TW, Garcia-Marcinkiewicz AG, Peyton JM, Fiadjoe JE, Kovatsis PG, Stein ML; PeDI Collaborative Investigators. Longacre M, et al. Anesth Analg. 2024 Oct 24. doi: 10.1213/ANE.0000000000006959. Online ahead of print. Anesth Analg. 2024. PMID: 39446662
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortüm F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP; University of Washington Center for Rare Disease Research; Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD; Undiagnosed Diseases Network; Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV. Morimoto M, et al. Among authors: hauser n. Am J Hum Genet. 2024 Sep 5;111(9):1970-1993. doi: 10.1016/j.ajhg.2024.07.008. Epub 2024 Aug 5. Am J Hum Genet. 2024. PMID: 39106866
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: hauser ns. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. doi: 10.1016/j.ajhg.2024.05.001. Epub 2024 May 29. Am J Hum Genet. 2024. PMID: 38815585 Free PMC article.
223 results