List of works - Thuong Ha - Paulina

List of works by Thuong Ha

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

scientific article published on 28 December 2015

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

scientific article published on 25 May 2016

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

scientific article published on 8 June 2017

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

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

scientific article published on 01 March 2020

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