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Faletra, Flavio
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Preferred name
Faletra, Flavio
Main Affiliation
Email
flavio.faletra@burlo.trieste.it
ORCID
Scopus Author ID
57211975644
Research Output
Now showing 1 - 10 of 25
- PublicationNatural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
; ; ; ; ; ; - PublicationConjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1
; Ferrara Giovanna - 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
; ; ; ; ; ; ; - PublicationPrenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
; ; - PublicationPrenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes
; ; ; ; ; - PublicationGenomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia
; ; ; ; - PublicationHeterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
; ; - PublicationVariants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
; ; ; ; ; Reymond Alexandre
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