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Titolo Data di pubblicazione Autore(i) File Abstract
MET is a new confirmed gene responsible for familial distal arthrogryposis 1-gen-2024 Maffeo, Debora; Carrer, Anna; Rina, Angela; Adamo, Loredaria; Lo Rizzo, Caterina; Bruttini, Mirella; Renieri, Alessandra; Mari, Francesca -
Audiological characterization of X-linked mouse model 21-mar-2023 Bindi, Ilaria; Giorli, Alessia; Daga, Sergio; Lorenzini, Luca; Calzà, Laura; Renieri, Alessandra; Mandala', Marco -
AReverseShoulderArthroplasty ImplantationWithCustom-MadeHumerus andIntraoperativeGPSNavigationina RareCaseofUnilateralHipandShoulder DysplasiaAssociatedWithaBoneMarrow MosaicPTENTruncatingVariant:Case Report 1-gen-2023 Colasanti, GIOVANNI BATTISTA; Troiano, Elisa; DE SENSI, ALICE GIULIA; Lauradisarno, ; Renieri, Alessandra; Mondanelli, Nicola; Sefanogiannotti, -
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 1-gen-2023 Bergantini, Laura; Baldassarri, Margherita; D'Alessandro, Miriana; Brunelli, Giulia; Fabbri, Gaia; Zguro, Kristina; Degl'Innocenti, Andrea; Fallerini, Chiara; Bargagli, Elena; Renieri, Alessandra -
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 1-gen-2023 Bruno, Lucia Pia; Doddato, Gabriella; Baldassarri, Margherita; Rizzo, Caterina Lo; Resciniti, Sara; Bruttini, Mirella; Mirjam, Lista; Zguro, Kristina; Furini, Simone; Mencarelli, Maria Antonietta; Renieri, Alessandra; Ariani, Francesca -
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2-Related Neural Disorder: A Possible New Cell-Based Disease Model 1-gen-2023 Al Sammarraie, Sura Hilal Ahmed; Aprile, Domenico; Meloni, Ilaria; Alessio, Nicola; Mari, Francesca; Manata, Marianna; Lo Rizzo, Caterina; Di Bernardo, Giovanni; Peluso, Gianfranco; Renieri, Alessandra; Galderisi, Umberto -
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 1-gen-2023 Serio, Viola Bianca; Palmieri, Maria; Innamorato, Simona; Loberti, Lorenzo; Fallerini, Chiara; Ariani, Francesca; Antolini, Enrica; Covarelli, Jasmine; Vaghi, Massimo; Frullanti, Elisa; Renieri, Alessandra; Pinto, Anna Maria -
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases 1-gen-2023 Vitale, Antonio; Caggiano, Valeria; Bimonte, Antonio; Caroni, Federico; Tosi, Gian Marco; Fabbiani, Alessandra; Renieri, Alessandra; Bocchia, Monica; Frediani, Bruno; Fabiani, Claudia; Cantarini, Luca -
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells 1-gen-2023 Alaverdian, Diana; Corradi, Anna Margherita; Sterlini, Bruno; Benfenati, Fabio; Murru, Luca; Passafaro, Maria; Brunetti, Jlenia; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra; Frullanti, Elisa -
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions 1-gen-2023 Sideropoulos, Vassilis; Van Herwegen, Jo; Meuleman, Ben; Alessandri, Michael; Alnemary, Faisal M; Rad, Jamal Amani; Lavenex, Pamela A Banta; Bolshakov, Nikita; Bölte, Sven; Buffle, Paulina; Cai, Ru Y; Campos, Ruth; Chirita-Emandi, Adela; Costa, Andreia P; Costanzo, Floriana; Des Portes, Vincent; Dukes, Daniel; Faivre, Laurence; Famelart, Nawelle; Fisher, Marisa H; Gamaiunova, Liudmilla; Giannadou, Aikaterini; Gupta, Rashmi; Hardan, Antonio Y; Houdayer-Robert, Françoise; Hrncirova, Lenka; Iaochite, Roberto Tadeu; Jariabkova, Katarina; Klein-Tasman, Bonita P; Lavenex, Pierre; Malik, Supriya; Mari, Francesca; Martinez-Castilla, Pastora; Menghini, Deny; Nuske, Heather J; Palikara, Olympia; Papon, Anouk; Pegg, Robin S; Pouretemad, Hamidreza; Poustka, Luise; Prosetzky, Ingolf; Renieri, Alessandra; Rhodes, Sinead M; Riby, Deborah M; Rossi, Massimiliano; Sadeghi, Saeid; Su, Xueyen; Tai, Claire; Tran, Michel; Tynan, Fionnuala; Uljarević, Mirko; Van Hecke, Amy V; Veiga, Guida; Verloes, Alain; Vicari, Stefano; Werneck-Rohrer, Sonja G; Zander, Eric; Samson, Andrea C -
Natural history of KBG syndrome in a large European cohort 1-gen-2022 Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria -
The 2019 and 2021 International Workshops on Alport Syndrome 1-gen-2022 Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S; Hoefele, Julia; Flinter, Frances; Gale, Daniel P; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra -
The phenomenon of multidrug resistance in glioblastomas 1-gen-2022 Chernov, Alexandr N.; Alaverdian, Diana A.; Galimova, Elvira S.; Renieri, Alessandra; Frullanti, Elisa; Meloni, Ilaria; Shamova, Olga V. -
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 1-gen-2022 Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieri, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultström, Michael; Ludwig, Kerstin U; Schulte, Eva C; Pairo-Castineira, Erola; Baillie, John Kenneth; Schmidt, Axel; Frithiof, Robert; Mari, Francesca; Renieri, Alessandra; Furini, Simone; Pinto, ANNA MARIA; Montagnani, Francesca; Tumbarello, Mario; Rancan, Ilaria; Fabbiani, Massimiliano; Rossetti, Barbara; Bergantini, Laura; D'Alessandro, Miriana; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, Maria Antonietta; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno -
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 1-gen-2022 Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieri, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultström, Michael; Ludwig, Kerstin U; Schulte, Eva C; Pairo-Castineira, Erola; Baillie, John Kenneth; Schmidt, Axel; Frithiof, Robert; Mari, Francesca; Renieri, Alessandra; Furini, Simone -
A first update on mapping the human genetic architecture of COVID-19 1-gen-2022 Pathak, Ga; Polimanti, R; Karjalainen, J; Daly, M; Ganna, A; Daly, Mj; Stevens, C; Kanai, M; Liao, Rg; Trankiem, A; Balaconis, Mk; Nguyen, H; Solomonson, M; Veerapen, K; Ripatti, S; Nkambul, L; Bryant, S; Sankaran, Vg; Neale, Bm; Karczewski, Kj; Martin, Ar; Atkinson, Eg; Tsuo, K; Baya, N; Turley, P; Gupta, R; Walters, Rk; Palmer, Ds; Sarma, G; Cheng, N; Lu, W; Churchhouse, C; Goldstein, Ji; King, D; Zhou, W; Seed, C; Finucane, H; Satterstrom, Fk; Andrews, Sj; Sloofman, Lg; Sealfon, Sc; Hoggart, C; Underwood, Sj; Cordioli, M; Pirinen, M; Donner, K; Kivinen, K; Palotie, A; Kaunisto, M; Harerimana, N; Chwialkowska, K; Wolford, B; Roberts, G; Park, D; Ball, Ca; Coignet, M; Mccurdy, S; Knight, S; Partha, R; Rhead, B; Zhang, M; Berkowitz, N; Gaddis, M; Noto, K; Ruiz, L; Pavlovic, M; Hong, El; Rand, K; Girshick, A; Guturu, H; Baltzell, Ah; Niemi, Mek; Pigazzini, S; Rahmouni, S; Georges, M; Belhaj, Y; Guntz, J; Claassen, S; Beguin, Y; Gofflot, S; Nkambule, L; Nkambul, L; Cusick, C; Moutschen, M; Misset, B; Darcis, G; Guiot, J; Azarzar, S; Malaise, O; Huynen, P; Meuris, C; Thys, M; Jacques, J; Leonard, P; Frippiat, F; Giot, Jb; Sauvage, As; Von Frenckell, C; Lambermont, B; Nakanishi, T; Morrison, Dr; Richards, Jb; Butler-Laporte, G; Forgetta, V; Ghosh, B; Laurent, L; Henry, D; Abdullah, T; Adeleye, O; Mamlouk, N; Kimchi, N; Afrasiabi, Z; Rezk, N; Vulesevic, B; Bouab, M; Guzman, C; Petitjean, L; Tselios, C; Xue, Xq; Afilalo, J; Adra, D; Mooser, V; Li, R; Belisle, A; Lepage, P; Ragoussis, J; Auld, D; Lathrop, Gm; Afilalo, M; Oliveira, M; Brenner, B; Brassard, N; Durand, M; Chasse, M; Kaufmann, De; Schurr, E; Hayward, C; Richmond, A; Baillie, Jk; Glessner, Jt; Hakonarson, H; Chang, X; Shaw, Dm; Below, J; Polikowski, H; Lauren, Pe; Chen, Hh; Zhu, Wy; Davis, L; Kerchberger, Ve; Campbell, A; Porteous, Dj; Fawns-Ritchie, C; Morris, M; Mccormick, Jb; North, K; Glessner, Jr; Gignoux, Cr; Wicks, Sj; Crooks, K; Barnes, Kc; Daya, M; Shortt, J; Rafaels, N; Chavan, S; Timmers, Prhj; Wilson, Jf; Tenesa, A; Kerr, Sm; D'Mellow, K; Shahin, D; El-Sherbiny, Ym; El-Jawhari, Jj; von Hohenstaufen, Ka; Sobh, A; Eltoukhy, Mm; Mohamed, Aas; Elhadidy, Ta; Abd Elghafar, Ms; Elnagdy, Mh; Samir, A; Hegazy, Maf; Abdel-Aziz, M; Khafaga, Wt; El-Lawaty, Wm; Torky, Ms; Moahmed, Hs; El-shanshory, Mr; Yassen, Am; Okasha, K; Eid, Ma; Medina-Gomez, C; Uitterlinden, Ag; Ikram, Ma; Magi, R; Milani, L; Metspalu, A; Laisk, T; Lall, K; Lepamets, M; Esko, T; Reimann, E; Alavere, H; Metsalu, K; Puusepp, M; Naaber, P; Laane, E; Pesukova, J; Peterson, P; Kisand, K; Tabri, J; Allos, R; Hensen, K; Starkopf, J; Ringmets, I; Tamm, A; Kallaste, A; Batini, C; Tobin, Md; Venn, Ld; Lee, Ph; Shrine, N; Williams, At; Guyatt, Al; John, C; Packer, Rj; Ali, A; Wang, X; Wain, Lv; Bee, Ce; Adams, El; Free, Rc; Hollox, Ej; Ruotsalainen, S; Kristiansson, K; Koskelainen, S; Perola, M; Rivolta, C; Quinodoz, M; Kamdar, D; Bochud, Py; Boillat, N; Bibert, S; Nussle, Sg; Albrich, W; Suh, N; Neofytos, D; Erard, V; Voide, C; Friolet, R; Vollenweider, P; Pagani, Jl; Oddo, M; zu Bentrup, Fm; Conen, A; Clerc, O; Marchetti, O; Guillet, A; Guyat-Jacques, C; Foucras, S; Rime, M; Chassot, J; Jaquet, M; Viollet, Rm; Lannepoudenx, Y; Portopena, L; Bochud, Py; Desgranges, F; Filippidis, P; Guery, B; Haefliger, D; Kampouri, Ee; Manuel, O; Munting, A; Papadimitriou-Olivgeris, M; Regina, J; Rochat-Stettler, L; Suttels, V; Tadini, E; Tschopp, J; Van Singer, M; Viala, B; Boillat-Blanco, N; Brahier, T; Hugli, O; Meuwly, Jy; Pantet, O; Nussle, Sg; Bochud, M; D'Acremont, V; Younes, Se; Albrich, Wc; Suh, N; Cerny, A; O'Mahony, L; von Mering, C; Frischknecht, M; Kleger, Gr; Filipovic, M; Kahlert, Cr; Wozniak, H; Negro, Tr; Pugin, J; Bouras, K; Knapp, C; Egger, T; Perret, A; Montillier, P; di Bartolomeo, C; Barda, B; de Cid, R; Carreras, A; Galvan-Femenia, I; Blay, N; Farre, X; Sumoy, L; Cortes, B; Moreno, V; Kogevinas, M; Garcia-Aymerich, J; Castano-Vinyals, G; Dobano, C; Mercader, Jm; Mercader, J; Guindo-Martinez, M; Torrents, D; Gori, M; Picchiotti, N; Tanfoni, M; Renieri, A; Mari, F; Fallerini, C; Daga, S; Baldassarri, M; Fava, F; Frullanti, E; Valentino, F; Doddato, G; Giliberti, A; Bruttini, M; Croci, S; Meloni, I; Beligni, G; Di Sarno, L; Palmieri, M; Carriero, Ml; Alaverdian, D; Tita, R; Amitrano, S; Mencarelli, Ma; Lo Rizzo, C; Pinto, Am; Montagnani, F; Tumbarello, M; Furini, S; Benetti, E; Zguro, K; Capitani, K; Bianchi, F; Lista, M; Mondelli, Mu; Bruno, R; Castelli, F; Quiros-Roldan, E; Degli Antoni, M; Vaghi, M; Rusconi, S; Riva, A; Siano, M; Gabrieli, A; Fabbiani, M; Rossetti, B; Rancan, I; Bargagli, E; Bergantini, L; D'Alessandro, M; Cameli, P; Bennett, D; Franchi, F; Anedda, F; Marcantonio, S; Scolletta, S; Mazzei, Ma; Guerrini, S; Cantarini, L; Conticini, E; Frediani, B; Tacconi, D; Spertilli, C; Feri, M; Donati, A; Scala, R; Guidelli, L; Spargi, G; Corridi, M; Nencioni, C; Croci, L; Bandini, M; Piacentini, P; Desanctis, E; Cappelli, S; Caldarelli, Gp; Canaccini, A; Verzuri, A; Anemoli, V; Ognibene, A; Pancrazzi, A; Lorubbio, M; Monforte, Ad; Miraglia, Fg; Girardis, M; Busani, S; Venturelli, S; Antinori, A; Emiliozzi, A; Vergori, A; Francisci, D; Schiaroli, E; Tommasi, A; Paciosi, F; Scotton, Pg; Andretta, F; Panese, S; Scaggiante, R; Gatti, F; Della Monica, M; Piscopo, C; Capasso, M; Russo, R; Andolfo, I; Iolascon, A; Merla, G; Fiorentino, G; Castori, M; Carella, M; Aucella, F; Di Biagio, A; Bassetti, M; Masucci, L; Sanguinetti, M; Guarnaccia, A; Valente, S; De Vivo, O; Mandala, M; Giorli, A; Salerni, L; Zucchi, P; Parravicini, P; Giannattasio, F; Trotta, T; Coiro, G; Coviello, Da; Mussini, C; Tavecchia, L; Belli, Ma; Mancarella, S; Crotti, L; Parati, G; Rizzi, M; Maggiolo, F; Ripamonti, D; La Rovere, Mt; Sarzi-Braga, S; Bussotti, M; Ravaglia, S; Artuso, R; Andreucci, E; Perrella, A; Romani, D; Bergomi, P; Catena, E; Colombo, R; Vincenti, A; Ferri, C; Grassi, D; Pessina, G; Poscente, M; Di Pietro, M; Sabrina, R; Luchi, S; Dei, S; Sanarico, M; Gabbi, C; Ceri, S; Pinoli, P; Raimondi, F; Biscarini, F; Stella, A; Vecchia, M; Mantovani, S; Ludovisi, S; Zanella, I; Cossarizza, A; Parisi, Sg; Baratti, S; Squeo, Gm; Raggi, P; Marciano, C; Perna, R; Menatti, E; Lena, F; Martinelli, E; Bachetti, T; Suardi, C; Botta, G; Di Domenico, P; Barbieri, C; Tiseo, G; Falcone, M; Acquilini, D; Segala, Fv; Petrocelli, P; Baroni, S; van Heel, Da; Hunt, Ka; van Heel, D; Trembath, Rc; Huang, Qq; Martin, Hc; Mason, D; Wright, J; Trivedi, B; Finer, S; Akhtar, S; Anwar, M; Arciero, E; Ashraf, S; Breen, G; Chung, R; Curtis, Cj; Chowdhury, M; Colligan, G; Deloukas, P; Durham, C; Griffiths, C; Hurles, M; Hussain, S; Islam, K; Khan, A; Khan, A; Lavery, C; Lee, Sh; Lerner, R; Macarthur, D; Maclaughlin, B; Martin, H; Miah, S; Newman, B; Safa, N; Tahmasebi, F; Griffiths, Cj; Smith, Av; Boughton, Ap; Li, Kw; Lefaive, J; Annis, A; Zollner, S; Wang, Jm; Beck, A; Niavarani, A; Sharififard, B; Aliannejad, R; Naderpour, Z; Amirsavadkouhi, A; Tadi, Ha; Aleagha, Ae; Ahmadi, S; Moghaddam, Sbm; Adamsara, A; Saeedi, M; Abdollahi, H; Hosseini, A; Chariyavilaskul, P; Jantarabenjakul, W; Putchareon, O; Torvorapanit, P; Puthanakit, T; Hirankarn, N; Sodsai, P; Chamnanphon, M; Suttichet, Tb; Shotelersuk, V; Phokaew, C; Chetruengchai, W; Pongpanich, M; Suchartlikitwong, P; Nilaratanakul, V; Brumpton, B; Hveem, K; Asvold, Bo; Willer, C; Rogne, T; Solligard, E; Franke, L; Claringbould, A; Lopera, E; Warmerdam, R; van Blokland, I; Boezen, M; Deelen, P; Vonk, Jm; Lanting, P; Ori, Aps; Feng, Yca; Weiss, St; Karlson, Ew; Woolley, Ae; Smoller, Jw; Murphy, Sn; Meigs, Jb; Green, Rc; Perez, Ef; Ascolillo, S; Thompson, Rc; Beckmann, Nd; Sebra, Rp; Gettler, K; Salib, I; Zyndorf, M; Schadt, Ee; Collins, Bl; Levy, T; Buxbaum, Jd; Britvan, B; Keller, K; Tang, L; Peruggia, M; Hiester, Ll; Niblo, K; Aksentijevich, A; Labkowsky, A; Karp, A; Zlatopolsky, M; Jordan, Dm; Chaudhary, K; Cho, Jh; Itan, Y; Do, R; Nadkarni, Gn; Preuss, M; Loos, Rjf; Belbin, Gm; Abul-Husn, Ns; Kenny, Ee; Choi, S; O'Reilly, P; Charney, Aw; Huckins, Lm; Ferreira, Mar; Abecasis, Gr; Cantor, Mn; Kosmicki, Ja; Horowitz, Je; Baras, A; Yadav, A; Leader, Jb; Gass, Mc; Justice, Ae; Chittoor, G; Josyula, Ns; Carey, Dj; Mirshahi, T; Hottenga, Jj; Bartels, M; de Geus, Eejc; Nivard, Mmg; Verma, A; Ritchie, Md; Rader, D; Verma, Ss; Lucas, A; Bradford, Y; Li, B; Abedalthagafi, M; Al Harthi, F; Alsolm, E; Abu Safieh, L; Alowayn, Am; Alqubaishi, F; Al Mutairi, A; Albardis, H; Alotaibi, S; Fawzy, Ms; Alaamery, M; Massadeh, S; Almutairi, M; Alshareef, A; Suliman, Ba; Sawaji, M; Almalik, A; Alqahtani, S; Baraka, D; Hasanato, R; Mangul, S; Aljawini, N; Albesher, N; Alkwai, S; Alswailm, M; Almohammed, I; Arabi, Ym; Mahmoud, Es; Khattab, Ak; Halawani, Rt; Alahmadey, Zz; Albakri, Jk; Felemban, Wa; Al-Awdah, L; Alghamdi, J; Alzahrani, D; Aldhawi, N; Almalki, F; Albeladi, M; Albader, A; Aljohani, S; Al-Afghani, H; Barhoush, E; Alghamdi, B; Jung, J; Alrashed, M; Zeberg, H; Maricic, T; Frithiof, R; Hultstrom, M; Lipcsey, M; Tardif, N; Rooyackers, O; Grip, J; Helgeland, O; Harris, Jr; Magnus, P; Lee, Y; Trogstad, Lis; Mangino, M; Spector, Td; Emma, D; Moutsianas, L; Caulfield, Mj; Scott, Rh; Rendon, A; Kousathanas, A; Pasko, D; Walker, S; Stuckey, A; Odhams, Ca; Rhodes, D; Fowler, T; Chan, G; Arumugam, P; Wilson, Dj; Earle, Sg; Lin, Sk; Arning, N; Armstrong, J; Rudkin, Jk; Spencer, Cca; Koelling, N; Crook, Dw; Wyllie, Dh; O'Connell, Am; Band, G; Callier, S; Soranzo, N; Zhao, Jh; Danesh, J; Di Angelantonio, E; Butterworth, As; Sun, Yv; Huffman, Je; O'Donnell, Cj; Peloso, G; Cho, K; Gaziano, Jm; Ho, Yl; Tsao, P; Priest, J; Smieszek, Sp; Polymeropoulos, C; Polymeropoulos, V; Polymeropoulos, Mh; Przychodzen, Bp; Fernandez-Cadenas, I; Llucia-Carol, L; Cullell, N; Muino, E; Carcel-Marquez, J; Planas, Am; Perez-Tur, J; Dediego, Ml; Iglesias, Ll; Soriano, A; Rico, V; Aguero, D; Bedini, Jl; Domingo, C; Robles, V; Lozano, F; Ruiz-Jaen, F; Marquez, L; Gomez, J; Coto, E; Albaiceta, Gm; Garcia-Clemente, M; Dalmau, D; Arranz, Mj; Dietl, B; Serra-Llovich, A; Soler, P; Colobran, R; Martin-Nalda, A; Martinez, Ap; Bernardo, D; Fiz-Lopez, A; Arribas, E; De La Cal-Sabater, P; Rojo, S; Segura, T; Gonzalez-Villa, E; Serrano-Heras, G; Marti-Fabregas, J; Jimenez-Xarrie, E; Mimbrera, Ad; Masjuan, J; Garcia-Madrona, S; Dominguez-Mayoral, A; Villalonga, Jm; Menendez-Valladares, P; Chasman, Di; Sesso, Hd; Manson, Je; Buring, Je; Ridker, Pm; Franco, G; Lee, S; Biesecker, L -
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 1-gen-2022 Croci, Susanna; Venneri, Mary Anna; Mantovani, Stefania; Fallerini, Chiara; Benetti, Elisa; Picchiotti, Nicola; Campolo, Federica; Imperatore, Francesco; Palmieri, Maria; Daga, Sergio; Gabbi, Chiara; Montagnani, Francesca; Beligni, Giada; Farias, Ticiana D. J.; Carriero, Miriam Lucia; Di Sarno, Laura; Alaverdian, Diana; Aslaksen, Sigrid; Cubellis, Maria Vittoria; Spiga, Ottavia; Baldassarri, Margherita; Fava, Francesca; Norman, Paul J.; Frullanti, Elisa; Isidori, Andrea M.; Amoroso, Antonio; Mari, Francesca; Furini, Simone; Mondelli, Mario U; GEN-COVID multicenter study, Null; Chiariello, Mario; Renieri, Alessandra; Meloni, Ilaria -
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study 1-gen-2022 Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur; Faivre, Laurence; Chantot-Bastaraud, Sandra; Beneteau, Claire; Denis-Musquer, Marie; Turnpenny, Peter D.; Coutton, Charles; Vieville, Gaelle; Thevenon, Julien; Larson, Austin; Petit, Florence; Boudry, Elise; Smol, Thomas; Delobel, Bruno; Duban-Bedu, Benedicte; Fallerini, Chiara; Mari, Francesca; LO RIZZO, Caterina; Renieri, Alessandra; Caberg, Jean-Hubert; Denomme-Pichon, Anne-Sophie; Tran Mau-Them, Frederic; Maystadt, Isabelle; Courtin, Thomas; Keren, Boris; Mouthon, Linda; Charles, Perrine; Cuinat, Silvestre; Isidor, Bertrand; Theis, Philippe; Muller, Christian; Kulisic, Marizela; Turkmen, Seval; Stieber, Daniel; Bourgeois, Dominique; Scalais, Emmanuel; Klink, Barbara -
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder 1-gen-2022 Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari, Francesca; Wangler, Michael F; Arur, Swathi; Jiang, Yong-Hui; Yamamoto, Shinya; Shashi, Vandana; Bellen, Hugo J -
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 1-gen-2022 Baldassarri, Margherita; Zguro, Kristina; Tomati, Valeria; Pastorino, Cristina; Fava, Francesca; Croci, Susanna; Bruttini, Mirella; Picchiotti, Nicola; Furini, Simone; Pedemonte, Nicoletta; Gabbi, Chiara; Renieri, Alessandra; Fallerini, Chiara; Gen-Covid Multicenter Study, ; Mari, Francesca; Daga, Sergio; Meloni, Ilaria; Alaverdian, Diana; Beligni, Giada; Gabriella, Doddato; Mirjam, Lista; Maffeo, Debora; Pasquinelli, Elena; Adamo, Loredaria; Serio, VIOLA BIANCA; Antolini, Enrica; Brunelli, Giulia; Rossella, Tita; Maria Antonietta Mencarelli, ; LO RIZZO, Caterina; Pinto, ANNA MARIA; Ariani, Francesca; Montagnani, Francesca; Tumbarello, Mario; Ilaria, Rancan; Massimiliano, Fabbiani; Bargagli, Elena; Bergantini, Laura; D'Alessandro, Miriana; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, MARIA ANTONIETTA; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno; Danilo, Tacconi; Chiara Spertilli Raffaelli, ; Arianna, Emiliozzi; Marco, Feri; Alice, Donati; Raffaele, Scala; Luca, Guidelli; Genni, Spargi; Marta, Corridi; Cesira, Nencioni; Leonardo, Croci; Gian Piero Caldarelli, ; Davide, Romani; Paolo, Piacentini; Maria Antonietta Bandini, ; Elena, Desanctis; Silvia, Cappelli; Anna, Canaccini; Agnese, Verzuri; Valentina, Anemoli; Manola, Pisani; Agostino, Ognibene; Maria, Lorubbio; Alessandro, Pancrazzi; Massimo, Vaghi; Antonella D'Arminio Monforte, ; Federica Gaia Miraglia, ; Mario Umberto Mondeli, ; Stefania, Mantovani; Raffaele, Bruno; Marco, Vecchia; Marcello, Maffezzoni; Enrico, Martinelli; Massimo, Girardis; Stefano, Busani; Sophie, Venturelli; Andrea, Cossarizza; Andrea, Antinori; Alessandra, Vergori; Stefano, Rusconi; Matteo, Siano; Arianna, Gabrieli; Agostino, Riva; Daniela, Francisci; Elisabetta, Schiaroli; Carlo, Pallotto; Saverio Giuseppe Parisi, ; Monica, Basso; Sandro, Panese; Stefano, Baratti; Pier Giorgio Scotton, ; Francesca, Andretta; Mario, Giobbia; Renzo, Scaggiante; Francesca, Gatti; Francesco, Castelli; Eugenia, Quiros-Roldan; Melania Degli Antoni, ; Isabella, Zanella; Matteo Della Monica, ; Carmelo, Piscopo; Mario, Capasso; Roberta, Russo; Immacolata, Andolfo; Achille, Iolascon; Giuseppe, Fiorentino; Massimo, Carella; Marco, Castori; Giuseppe, Merla; Gabriella Maria Squeo, ; Filippo, Aucella; Pamela, Raggi; Rita, Perna; Matteo, Bassetti; Antonio Di Biagio, ; Maurizio, Sanguinetti; Luca, Masucci; Alessandra, Guarnaccia; Valente, Serafina; Alex Di Florio, ; Marco, Mandalà; Giorli, Alessia; Salerni, Lorenzo; Patrizia, Zucchi; Pierpaolo, Parravicini; Elisabetta, Menatti; Tullio, Trotta; Ferdinando, Giannattasio; Gabriella, Coiro; Fabio, Lena; Gianluca, Lacerenza; Cristina, Mussini; Luisa, Tavecchia; Lia, Crotti; Gianfranco, Parati; Roberto, Menè; Maurizio, Sanarico; Gori, Marco; Francesco, Raimondi; Alessandra, Stella; Filippo, Biscarini; Tiziana, Bachetti; Maria Teresa La Rovere, ; Maurizio, Bussotti; Serena, Ludovisi; Katia, Capitani; Simona, Dei; Sabrina, Ravaglia; Annarita, Giliberti; Giulia, Gori; Rosangela, Artuso; Elena, Andreucci; Angelica, Pagliazzi; Erika, Fiorentini; Antonio, Perrella; Francesco, Bianchi; Paola, Bergomi; Emanuele, Catena; Riccardo, Colombo; Sauro, Luchi; Giovanna, Morelli; Paola, Petrocelli; Sarah, Lacopini; Sara, Modica; Silvia, Baroni; Giulia, Micheli; Marco, Falcone; Donato, Urso; Giusy, Tiseo; Tommaso, Matucci; Davide, Grassi; Claudio, Ferri; Franco, Marinangeli; Francesco, Brancati; Antonella, Vincenti; Valentina, Borgo; Stefania, Lombardi; Mirco, Lenzi; Massimo Antonio Di Pietro, ; Francesca, Vichi; Benedetta, Romanin; Letizia, Attala; Cecilia, Costa; Andrea, Gabbuti; Alessia, Bellucci; Marta, Colaneri; Patrizia, Casprini; Cristoforo, Pomara; Massimiliano, Esposito; Leoncini, Roberto; Michele, Cirianni; Lucrezia, Galasso; Marco Antonio Bellini, -
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