Publications by authors named "Rohan Peter Mathew"

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A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.
Rohan Peter Mathew, Prashanth Ranya Raghavendra, Biradar Disha, Ashwin Dalal, Periyasamy Govindaraj

Am J Med Genet A· November 2024

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Mitochondria in biology and medicine - 2023.
B Disha, Rohan Peter Mathew, Ashwin B Dalal, Ajay K Mahato, Kapaettu Satyamoorthy

Mitochondrion· May 2024

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Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Asodu Sandeep Sarma, Rohan Peter Mathew, Ashwin Dalal, Venkatraman Bhat, Siddaramappa Jagdish Patil

Eur J Med Genet· July 2023

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