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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: giannone pj. Am J Kidney Dis. 2024 Jan 10:S0272-6386(24)00010-6. doi: 10.1053/j.ajkd.2023.12.011. Online ahead of print. Am J Kidney Dis. 2024. PMID: 38211685
Systematic review and network meta-analysis with individual participant data on cord management at preterm birth (iCOMP): study protocol.
Seidler AL, Duley L, Katheria AC, De Paco Matallana C, Dempsey E, Rabe H, Kattwinkel J, Mercer J, Josephsen J, Fairchild K, Andersson O, Hosono S, Sundaram V, Datta V, El-Naggar W, Tarnow-Mordi W, Debray T, Hooper SB, Kluckow M, Polglase G, Davis PG, Montgomery A, Hunter KE, Barba A, Simes J, Askie L; iCOMP Collaboration. Seidler AL, et al. BMJ Open. 2020 Mar 29;10(3):e034595. doi: 10.1136/bmjopen-2019-034595. BMJ Open. 2020. PMID: 32229522 Free PMC article.
47 results