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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1956 1
1997 1
1998 1
1999 1
2002 1
2007 2
2008 1
2010 1
2011 2
2012 3
2014 3
2015 4
2016 9
2017 4
2018 8
2019 10
2020 8
2021 9
2022 9
2023 4
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75 results
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Page 1
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: sampaio ha. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy.
D'Silva AM, Holland S, Kariyawasam D, Herbert K, Barclay P, Cairns A, MacLennan SC, Ryan MM, Sampaio H, Smith N, Woodcock IR, Yiu EM, Alexander IE, Farrar MA. D'Silva AM, et al. Among authors: sampaio h. Ann Clin Transl Neurol. 2022 Mar;9(3):339-350. doi: 10.1002/acn3.51519. Epub 2022 Feb 16. Ann Clin Transl Neurol. 2022. PMID: 35170254 Free PMC article.
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE, Sachdev R, Macintosh R, Melo US, Mundlos S, Righetti S, Kandula T, Minoche AE, Puttick C, Gayevskiy V, Hesson L, Idrisoglu S, Shoubridge C, Thai MHN, Davis RL, Drew AP, Sampaio H, Andrews PI, Lawson J, Cardamone M, Mowat D, Colley A, Kummerfeld S, Dinger ME, Cowley MJ, Roscioli T, Bye A, Kirk E. Palmer EE, et al. Among authors: sampaio h. Neurology. 2021 Mar 30;96(13):e1770-e1782. doi: 10.1212/WNL.0000000000011655. Epub 2021 Feb 10. Neurology. 2021. PMID: 33568551
Spinal Canal Involvement in Neuroblastoma.
Trahair T, Sorrentino S, Russell SJ, Sampaio H, Selek L, Plantaz D, Freycon C, Simon T, Kraal K, Beck-Popovic M, Haupt R, Ash S, De Bernardi B. Trahair T, et al. Among authors: sampaio h. J Pediatr. 2017 Sep;188:294-298. doi: 10.1016/j.jpeds.2017.05.051. Epub 2017 Jun 20. J Pediatr. 2017. PMID: 28645442 Review. No abstract available.
Screening for spinal muscular atrophy.
Sampaio H, Wilcken B, Farrar M. Sampaio H, et al. Med J Aust. 2018 Aug 20;209(4):147-148. doi: 10.5694/mja17.00772. Med J Aust. 2018. PMID: 30107765 No abstract available.
Nusinersen for SMA: expanded access programme.
Farrar MA, Teoh HL, Carey KA, Cairns A, Forbes R, Herbert K, Holland S, Jones KJ, Menezes MP, Morrison M, Munro K, Villano D, Webster R, Woodcock IR, Yiu EM, Sampaio H, Ryan MM. Farrar MA, et al. Among authors: sampaio h. J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):937-942. doi: 10.1136/jnnp-2017-317412. Epub 2018 Mar 16. J Neurol Neurosurg Psychiatry. 2018. PMID: 29549190
75 results