Anna Maria Pinto · researcher · YYNN

Anna Maria Pinto

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researcher

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Works
6

A first update on mapping the human genetic architecture of COVID-19

scientific article published on 3 August 2022

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

scientific article published on 01 March 2019

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

scientific article published on 24 April 2020

Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation

scientific article published on 31 December 2019

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

scientific article

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