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

Year Number of Results
1995 1
1997 3
1998 4
1999 8
2000 1
2001 8
2002 1
2003 2
2004 1
2005 2
2006 4
2007 4
2008 3
2009 1
2010 4
2011 2
2012 3
2013 4
2014 8
2015 6
2016 7
2017 3
2018 7
2019 6
2020 11
2021 7
2022 9
2023 5
2024 4
2025 6

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115 results

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Page 1
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Among authors: ellaway c. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
Paediatric Fabry disease.
Ellaway C. Ellaway C. Transl Pediatr. 2016 Jan;5(1):37-42. doi: 10.3978/j.issn.2224-4336.2015.12.02. Transl Pediatr. 2016. PMID: 26835405 Free PMC article. Review.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: ellaway c. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Among authors: ellaway c. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.
Gene Editing and Rett Syndrome: Does It Make the Cut?
Coorey B, Haase F, Ellaway C, Clarke A, Lisowski L, Gold WA. Coorey B, et al. Among authors: ellaway c. CRISPR J. 2022 Aug;5(4):490-499. doi: 10.1089/crispr.2022.0020. Epub 2022 Jul 26. CRISPR J. 2022. PMID: 35881862 Review.
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: ellaway c. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
The collective burden of childhood dementia: a scoping review.
Elvidge KL, Christodoulou J, Farrar MA, Tilden D, Maack M, Valeri M, Ellis M, Smith NJC; Childhood Dementia Working Group. Elvidge KL, et al. Brain. 2023 Nov 2;146(11):4446-4455. doi: 10.1093/brain/awad242. Brain. 2023. PMID: 37471493 Free PMC article.
Gastrointestinal dysmotility in Rett syndrome.
Baikie G, Ravikumara M, Downs J, Naseem N, Wong K, Percy A, Lane J, Weiss B, Ellaway C, Bathgate K, Leonard H. Baikie G, et al. Among authors: ellaway c. J Pediatr Gastroenterol Nutr. 2014 Feb;58(2):237-44. doi: 10.1097/MPG.0000000000000200. J Pediatr Gastroenterol Nutr. 2014. PMID: 24121144 Free article.
115 results