Publications by authors named "Simone Tregoning"

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, Nicole J Lake, Luke E Formosa, Simone Tregoning

Genome Med· May 2025

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Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus.
Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Simone Tregoning

Med· January 2021

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Fumarase deficiency in dichorionic diamniotic twins.
Simone Tregoning, Wendy Salter, David R Thorburn, Miranda Durkie, Maria Panayi

Twin Res Hum Genet· December 2013

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Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.
Kei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, Yuko Omata, Hiroshi Horie, Simone Tregoning

Eur J Pediatr· March 2009

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