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Steiner L. Steiner L. Blood. 2024 Aug 8;144(6):595-597. doi: 10.1182/blood.2024024947. Blood. 2024. PMID: 39115827 No abstract available.
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E. Richter F, et al. Among authors: steiner l. Am J Kidney Dis. 2024 Jun;83(6):829-833. doi: 10.1053/j.ajkd.2023.12.011. Epub 2024 Jan 10. Am J Kidney Dis. 2024. PMID: 38211685
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D; Care4Rare Canada Consortium. Alkhunaizi E, et al. Am J Med Genet A. 2023 Mar;191(3):760-769. doi: 10.1002/ajmg.a.63071. Epub 2022 Dec 10. Am J Med Genet A. 2023. PMID: 36495114 Free PMC article.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P; DDD Study; Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Caron V, et al. Among authors: steiner l. Genet Med. 2023 Aug;25(8):100856. doi: 10.1016/j.gim.2023.100856. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092537 Free PMC article.
Phage-induced disturbance of a marine sponge microbiome.
Steiner LX, Schmittmann L, Rahn T, Lachnit T, Jahn MT, Hentschel U. Steiner LX, et al. Environ Microbiome. 2024 Nov 26;19(1):97. doi: 10.1186/s40793-024-00637-7. Environ Microbiome. 2024. PMID: 39593141 Free PMC article.
627 results