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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jone… See abstract for full author list ➔ Bournazos AM, et al. Among authors: edwards m, edwards c. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. Among authors: edwards c. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
Yap P, Super L, Qin J, Burgess T, Prodanovic Z, Edwards C, Thomas R, Carpenter K, Tan TY. Yap P, et al. Among authors: edwards c. Pediatr Blood Cancer. 2016 Apr;63(4):706-8. doi: 10.1002/pbc.25812. Epub 2015 Oct 30. Pediatr Blood Cancer. 2016. PMID: 26514327
Perilobar nephrogenic rests and chromosome 22.
Mdzin R, Phillips M, Edwards C, Murch A, Charles A. Mdzin R, et al. Among authors: edwards c. Pediatr Dev Pathol. 2011 Nov-Dec;14(6):485-92. doi: 10.2350/10-01-0781-CR.1. Epub 2011 Aug 24. Pediatr Dev Pathol. 2011. PMID: 21864120
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Heron SE, Hernandez M, Edwards C, Edkins E, Jansen FE, Scheffer IE, Berkovic SF, Mulley JC. Heron SE, et al. Among authors: edwards c. Epilepsia. 2010 Feb;51(2):293-6. doi: 10.1111/j.1528-1167.2009.02317.x. Epub 2009 Oct 27. Epilepsia. 2010. PMID: 19863579 Free article.
Reduced congestion and improved response to a fluid/sodium challenge in chronic heart failure patients after initiation of sacubitril/valsartan: The NATRIUM-HF study.
Mebazaa A, Davison BA, Biegus J, Edwards C, Murtagh G, Varounis C, Hayrapetyan H, Sisakian H, Ter-Grigoryan VR, Takagi K, Novosadova M, Ponikowski P, Cotter G. Mebazaa A, et al. Among authors: edwards c. Eur J Heart Fail. 2024 May 9. doi: 10.1002/ejhf.3265. Online ahead of print. Eur J Heart Fail. 2024. PMID: 38721803
3,822 results