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List of works by Alissa M D'Gama

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus

scientific article published on 22 April 2019

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

scientific article published on 05 February 2020

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

scientific article published on 28 April 2018

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

scientific article published on 09 October 2020

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