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Faletra, Flavio
Preferred name
Faletra, Flavio
Main Affiliation
Email
flavio.faletra@burlo.trieste.it
ORCID
Scopus Author ID
57211975644
Research Output
Now showing 1 - 10 of 12
- PublicationSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
;Gasparini Paolo Gruppo ;Radio Francesca Clementina ;Pang Kaifang ;Ciolfi Andrea ;Levy Michael A. ;Hernández-GarcÃa Andrés ;Pedace Lucia ;Pantaleoni Francesca ;Liu Zhandong ;de Boer Elke ;Jackson Adam ;Bruselles Alessandro ;McConkey Haley ;Stellacci Emilia ;Lo Cicero Stefania ;Motta Marialetizia ;Carrozzo Rosalba ;Dentici Maria Lisa ;McWalter Kirsty ;Desai Megha ;Monaghan Kristin G. ;Telegrafi Aida ;Philippe Christophe ;Vitobello Antonio ;Au Margaret ;Grand Katheryn ;Sanchez-Lara Pedro A. ;Baez Joanne ;Lindstrom Kristin ;Kulch Peggy ;Sebastian Jessica ;Madan-Khetarpal Suneeta ;Roadhouse Chelsea ;MacKenzie Jennifer J. ;Monteleone Berrin ;Saunders Carol J. ;Jean Cuevas July K. ;Cross Laura ;Zhou Dihong ;Hartley Taila ;Sawyer Sarah L. ;Monteiro FabÃola Paoli ;Secches Tania Vertemati ;Kok Fernando ;Schultz-Rogers Laura E.; ; ; ; ;Dallapiccola BrunoTartaglia Marco - Publication
- PublicationNatural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
;Spedicati Beatrice; ;Palmisano Roberto; ;Barbieri Caterina ;Francescatto Margherita; ; ;Pelliccione Giulia; ; - PublicationConjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1
;Polizzi Silvio ;Caputo Roberto; Ferrara Giovanna - PublicationGNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
; ;Marzollo Antonio ;Marinoni Maddalena ;Athanasakis Emmanouil ;Persico Ilaria; ; ; ;Simoncini Daniela ;Rossini Linda ;Corsolini Fabio; ;Robustelli Giuseppe ;Gabelli Maria ;Agosti Massimo ;Biffi Alessandra ;Grotto Paolo ;Bozzi Valeria ;Noris Patrizia ;Burlina Alberto B; ; ; ;Pastore Annalisa; - PublicationClinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
; ;Da Lozzo Prisca; ;Ghirigato Elena ;Facca Francesco; ; ; ; ; - PublicationPrenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
;Sirchia F.; ;Feresin Agnese ;Giorgio E.; ;Mordeglia D. ;Barbieri Moira ;Guida V. ;De Luca A. - PublicationPrenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes
; ;Dibello Daniela ;Di Carlo Valentina ;Colin G. ;Barbieri Moira ;Belcaro Chiara; ; ; ; - PublicationGenomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia
; ;Ravera Silvia ;Napolitano Luisa M R ;Chiappetta Viviana ;Zini Nicoletta ;Crescenzi Barbara ;Arniani Silvia; ;Cortone Giuseppe; ;Medagli Barbara ;Sirchia Fabio ;Moretti Martina ;de Lange Job ;Cappelli Enrico ;Mecucci Cristina ;Onesti Silvia ;Pisani Francesca M;