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Works
7
A first update on mapping the human genetic architecture of COVID-19
AAV-mediated FOXG1 gene editing in human Rett primary cells
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients
"Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
