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List of works by Nishitha R Pillai

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

scientific article published on 10 July 2019

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

scientific article published in 2022

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

scientific article published on 10 September 2020

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

scientific article published on 13 September 2019

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

scientific article published on 08 May 2019

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