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SC Genetica Medica
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40 results
Now showing 1 - 10 of 40
- PublicationHearing function: Identification of new candidate genes further explaining the complexity of this sensory ability
; ; ; ; - PublicationNatural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
; ; ; ; ; ; - PublicationNon-syndromic sensorineural prelingual and postlingual hearing loss due to col11a1 gene mutation
; ; Bigoni Stefania - PublicationConjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1
; Ferrara Giovanna - PublicationPendred syndrome, or not pendred syndrome? That is the question
; ; ; ; ; ; - PublicationGNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
; ; ; ; ; ; ; ; ; - PublicationClinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
; ; ; ; ; ; ; - PublicationGenome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
; ; ; ; ; ; - PublicationRuns of homozygosity are associated with staging of periodontitis in isolated populations
; ; ; ; - PublicationPoking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations
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