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Works
6
A first update on mapping the human genetic architecture of COVID-19
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
Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Reevaluate Living-donor Kidney Transplantation
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
