List of works by Theresa Brunet

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

scientific article published on 01 December 2020

Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder

scientific article published on 27 February 2020

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

scientific article published on 11 November 2020

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

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