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Simone Tregoning

Simone Tregoning

Details

Role Research Assistant
Research area Genomic Medicine

Top Publications

  • Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, et al. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. Med 2(1) : 49 -73.e10 2021
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  • Tregoning, S, Salter, W, Thorburn, DR, Durkie, M, Panayi, M, Wu, JY, Easterbrook, A, Coman, DJ. Fumarase Deficiency in Dichorionic Diamniotic Twins. Twin Research and Human Genetics 16(6) : 1117 -1120 2013
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  • Murayama, K, Nagasaka, H, Tsuruoka, T, Omata, Y, Horie, H, Tregoning, S, Thorburn, DR, Takayanagi, M, Ohtake, A. Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency. European Journal of Pediatrics 168(3) : 297 -302 2009
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Career information