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List of works by Anya Revah-Politi

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

scientific article published on 22 September 2017

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

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