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List of works by Alicia B Byrne

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

scientific article published on 14 November 2019

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

scientific article published on 06 March 2020

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

scientific article published on 13 February 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

scientific article published on 27 January 2020

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

scientific article published on 28 June 2021

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

scientific article published on 03 October 2018

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