Now showing 1 - 10 of 75
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Hearing function: Identification of new candidate genes further explaining the complexity of this sensory ability

, Concas Maria Pina, Morgan Anna, Serra Fabrizio, Nagtegaal A.P., Oosterloo B.C., Seshadri S., Heard-Costa N., Van Camp G., Fransen E., Francescatto M., Logroscino G., Sardone R., Quaranta N., Gasparini Paolo, Girotto Giorgia

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Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1

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

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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

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Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations

, Mbarek Hamdi, Cocca Massimiliano, Al-Sarraj Yasser, Saad Chadi, Mezzavilla Massimo, Almuftah Wadha, Cocciadiferro Dario, Novelli Antonio, Quinti Isabella, Altawashi Azza, Salvaggio Salvino, Althani Asma, Novelli Giuseppe, Ismail Said I., Cocca Massimiliano

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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

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Pendred syndrome, or not pendred syndrome? That is the question

, Tesolin Paola, Fiorino Sofia, Lenarduzzi Stefania, Rubinato Elisa, Cattaruzzi Elisabetta, Ammar Lydie, Castro Veronica, Orzan Eva, Granata Claudio, Dell¿orco Daniele, Morgan Anna, Girotto Giorgia

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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

, Simcoe Mark, Valdes Ana, Liu Fan, Furlotte Nicholas A., Evans David M., Hemani Gibran, Ring Susan M., Smith George Davey, Duffy David L., Zhu Gu, Gordon Scott D., Medland Sarah E., Vuckovic Dragana, Girotto Giorgia, Sala Cinzia, Catamo Eulalia, Concas Maria Pina, Brumat Marco, Gasparini Paolo, Toniolo Daniela, Cocca Massimiliano, Robino Antonietta, Yazar Seyhan, Hewitt Alex, Wu Wenting, Kraft Peter, Hammond Christopher J., Shi Yuan, Chen Yan, Zeng Changqing, Klaver Caroline C.W., Uitterlinden Andre G., Ikram M. Arfan, Hamer Merel A., van Duijn Cornelia M., Nijsten Tamar, Han Jiali, Mackey David A., Martin Nicholas G., Cheng Ching Yu, the 23andMe Research Team, the International Visible Trait Genetics Consortium Gruppo, Hinds David A., Spector Timothy D., Kayser Manfred, Hysi Pirro G.

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Non-syndromic sensorineural prelingual and postlingual hearing loss due to col11a1 gene mutation

, Ciorba Andrea, Corazzi Virginia, Melegatti Michela, Morgan Anna, Pelliccione Giulia, Girotto Giorgia, Bigoni Stefania

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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

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Runs of homozygosity are associated with staging of periodontitis in isolated populations

, Mezzavilla Massimo, Navarra Chiara, Di Lenarda Roberto, Gasparini Paolo, Bevilacqua Lorenzo, Robino Antonietta, Robino Antonietta