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

Year Number of Results
1995 1
1997 1
1999 3
2000 1
2001 4
2002 1
2003 1
2004 1
2005 1
2008 1
2010 1
2012 1
2013 1
2014 1
2015 1
2020 1
2021 1
2022 3
2023 1
2024 0

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24 results

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Page 1
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, Rajagopalan S, Regan BM, Scheffer IE, Stark Z, Stutterd CA, Tan TY, Wilkins EJ, Yeung A, Hunter MF. Fennell AP, et al. Among authors: ellaway cj. Am J Med Genet A. 2022 Dec;188(12):3432-3447. doi: 10.1002/ajmg.a.62950. Epub 2022 Aug 17. Am J Med Genet A. 2022. PMID: 36367278
Rett syndrome: clinical review and genetic update.
Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Weaving LS, et al. Among authors: ellaway cj. J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730. J Med Genet. 2005. PMID: 15635068 Free PMC article. Review.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: ellaway cj. Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002. Genet Med. 2022. PMID: 35394429 Free article. No abstract available.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: ellaway cj. Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16. Genet Med. 2021. PMID: 34400813 Free PMC article.
Cholestatic jaundice and congenital hypopituitarism.
Ellaway CJ, Silinik M, Cowell CT, Gaskin KJ, Kamath KR, Dorney S, Donaghue KC. Ellaway CJ, et al. J Paediatr Child Health. 1995 Feb;31(1):51-3. doi: 10.1111/j.1440-1754.1995.tb02914.x. J Paediatr Child Health. 1995. PMID: 7748692
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.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L, Selvanathan A, Batten KJ, van Doorn N, Thompson S, Mitchell A, Sampaio H, Dalkeith T, Russell J, Ellaway CJ, Farrar M, Broderick C, Bhattacharya K. Adams L, et al. Among authors: ellaway cj. JIMD Rep. 2023 Aug 9;64(5):327-336. doi: 10.1002/jmd2.12389. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701325 Free PMC article.
Outcome of tyrosinaemia type III.
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV. Ellaway CJ, et al. J Inherit Metab Dis. 2001 Dec;24(8):824-32. doi: 10.1023/a:1013936107064. J Inherit Metab Dis. 2001. PMID: 11916315
24 results