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List of works by Nirmal Vadgama

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

scientific article published in February 2018

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

article

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

scientific article published on 18 March 2019

Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke

scientific article published on 29 January 2019

Elevated γ-glutamyltransferase and erythrocyte sedimentation rate in ischemic stroke in discordant monozygotic twin study.

scientific article

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

scientific article published on 27 June 2015

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