Now showing 1 - 10 of 21
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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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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

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Eating disinhibition and food liking are influenced by variants in CAV1 (caveolin 1) gene

, Concas Maria Pina, Cocca Massimiliano, Catamo Eulalia, Gasparini Paolo, Robino Antonietta

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Genetic dissection of temperament personality traits in Italian isolates

, Concas Maria Pina, Minelli Alessandra, Aere Susanna, Morgan Anna, Tesolin Paola, Gasparini Paolo, Gennarelli Massimo, Girotto Giorgia

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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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Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique

, Di Stazio Mariateresa, Foschi Nicola, Athanasakis Emmanouil, Gasparini Paolo, D'Adamo Adamo Pio, Di Stazio Mariateresa

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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

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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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Taste perception and expression in stomach of bitter taste receptor tas2r38 in obese and lean subjects

, Robino Antonietta, Rosso Natalia, Guerra Martina, Corleone Pio, Casagranda Biagio, Giraudi Pablo J., Tiribelli Claudio, Simeth Catrin, Monica Fabio, La Bianca Martina, Gasparini Paolo, de Manzini Nicolò, Palmisano Silvia, Robino Antonietta

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SPEN 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-García 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 Fabíola Paoli, Secches Tania Vertemati, Kok Fernando, Schultz-Rogers Laura E., Zanus Caterina, Faletra Flavio, Musante Luciana, Gasparini Paolo, Dallapiccola Bruno, Tartaglia Marco