Now showing 1 - 10 of 25
No Thumbnail Available
Publication

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

, Spedicati Beatrice, Cocca Massimiliano, Palmisano Roberto, Faletra Flavio, Barbieri Caterina, Francescatto Margherita, Mezzavilla Massimo, Morgan Anna, Pelliccione Giulia, Gasparini Paolo, Girotto Giorgia, Girotto Giorgia

No Thumbnail Available
Publication

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies

, Valencic Erica, Da Lozzo Prisca, Tornese Gianluca, Ghirigato Elena, Facca Francesco, Piscianz Elisa, Faletra Flavio, Taddio Andrea, Tommasini Alberto, Magnolato Andrea, Tornese Gianluca

No Thumbnail Available
Publication

Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes

, Fantasia Ilaria, Dibello Daniela, Di Carlo Valentina, Colin G., Barbieri Moira, Belcaro Chiara, Magni Elena, Faletra Flavio, Travan Laura, Stampalija Tamara, Fantasia Ilaria

No Thumbnail Available
Publication

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

, Bassani Sissy, Van Beelen Edward, Rossel Mireille, Voisin Norine, Morgan Anna, Arribat Yoan, Chatron Nicolas, Chrast Jacqueline, Cocca Massimiliano, Delprat Benjamin, Faletra Flavio, Giannuzzi Giuliana, Guex Nicolas, Machavoine Roxane, Pradervand Sylvain, Smits Jeroen J., Van De Kamp Jiddeke M., Ziegler Alban, Amati Francesca, Marlin Sandrine, Kremer Hannie, Locher Heiko, Maurice Tangui, Gasparini Paolo, Girotto Giorgia, Reymond Alexandre

No Thumbnail Available
Publication

Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1

, Polizzi Silvio, Caputo Roberto, Faletra Flavio, Ferrara Giovanna

No Thumbnail Available
Publication

A child without kneecaps

, Baldo Francesco, Magnolato Andrea, Bruno Irene, Faletra Flavio, Carbone Marco, Barbi Egidio

No Thumbnail Available
Publication

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia

, Bottega Roberta, Ravera Silvia, Napolitano Luisa M R, Chiappetta Viviana, Zini Nicoletta, Crescenzi Barbara, Arniani Silvia, Faleschini Michela, Cortone Giuseppe, Faletra Flavio, Medagli Barbara, Sirchia Fabio, Moretti Martina, de Lange Job, Cappelli Enrico, Mecucci Cristina, Onesti Silvia, Pisani Francesca M, Savoia Anna, Savoia Anna

No Thumbnail Available
Publication

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

, Bottega Roberta, Marzollo Antonio, Marinoni Maddalena, Athanasakis Emmanouil, Persico Ilaria, Bianco Anna Monica Rosaria, Faleschini Michela, Valencic Erica, Simoncini Daniela, Rossini Linda, Corsolini Fabio, La Bianca Martina, Robustelli Giuseppe, Gabelli Maria, Agosti Massimo, Biffi Alessandra, Grotto Paolo, Bozzi Valeria, Noris Patrizia, Burlina Alberto B, D'Adamo Adamo Pio, Tommasini Alberto, Faletra Flavio, Pastore Annalisa, Savoia Anna, Savoia Anna

No Thumbnail Available
Publication

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

, Sirchia F., Fantasia Ilaria, Feresin Agnese, Giorgio E., Faletra Flavio, Mordeglia D., Barbieri Moira, Guida V., De Luca A., Stampalija Tamara

No Thumbnail Available
Publication

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

, von der Lippe C., Tveten K., Prescott T.E., Holla Ø.L., Busk Ø.L., Burke K.B., Sansbury F.H., Baptista J., Fry A.E., Lim D., Jolles S., Evans J., Osio D., Macmillan C., Bruno Irene, Faletra Flavio, Climent S., Urreitzi R., Hoenicka J., Palau F., Cohen A.S.A., Engleman K., Zhou D., Amudhavalli S.M., Jeanne M., Bonnet-Brilhault F., Lévy J., Drunat S., Derive N., Haug M.G., Thorstensen W.M.