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Authors whose works are in public domain in at least one jurisdiction

List of works by Theresa Brunet

1-5 of 5 results

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

scientific article published on 27 February 2020
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

scientific article published on 01 December 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

scientific article published on 11 November 2020
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

scientific article published on 31 May 2023
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

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