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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 9

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118 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.
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 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.
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.
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.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Among authors: ellaway cj. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
118 results