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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.
Progressive myoclonic epilepsies: recent genetic advances.
Ellaway CJ, Elliott EJ, Christodoulou J. Ellaway CJ, et al. J Paediatr Child Health. 1997 Apr;33(2):91-5. doi: 10.1111/j.1440-1754.1997.tb01006.x. J Paediatr Child Health. 1997. PMID: 9145347 Review.
Rett syndrome: randomized controlled trial of L-carnitine.
Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Ellaway C, et al. J Child Neurol. 1999 Mar;14(3):162-7. doi: 10.1177/088307389901400306. J Child Neurol. 1999. PMID: 10190267 Clinical Trial.
Prolonged QT interval in Rett syndrome.
Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Ellaway CJ, et al. Arch Dis Child. 1999 May;80(5):470-2. doi: 10.1136/adc.80.5.470. Arch Dis Child. 1999. PMID: 10208957 Free PMC article.
107 results