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List of works by Martina Marangoni

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

scientific article published in 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

scientific article published on 30 November 2021

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

scientific article published on 30 April 2020

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation

scientific article published on 27 September 2019

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

scientific article published on 22 August 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

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