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List of works by Pietro Chiurazzi

Advances in understanding - genetic basis of intellectual disability

scientific article

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

scientific article published on 29 August 2020

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

scientific article published on 07 July 2020

Defining the role of the CGGBP1 protein in FMR1 gene expression.

scientific article published on 26 August 2015

Genetics of lipedema: new perspectives on genetic research and molecular diagnoses

scientific article published on 01 July 2019

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

scientific article published in 2022

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

scientific article published on 09 May 2016

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

scientific article

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