학술논문
'학술논문'
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1~10
Academic Journal
Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Calì, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A.; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B.; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo
In Pediatric Neurology December 2023 149:84-92
Academic Journal
Holtz, Alexander; VanCoillie, Rachel; Vansickle, Elizabeth; Carere, Deanna; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Guillen Sacoto, Maria; Si, Yue; Wentzensen, Ingrid; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, André; Aldinger, Kimberly; Dobyns, William; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten; OHeir, Emily; Moody, Shade; Kim, Katherine; Burton, Barbara; Yoon, Grace; Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan; Gordon, Patricia; Prokop, Jeremy; Karaa, Amel; Bupp, Caleb; Raby, Benjamin; Sherr, Elliott; Argilli, Emanuela
Genetics in Medicine. 24(10)
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saracoglu, Hilal Piril; Saribas, Burak; Avci, Sahin; Borklu, Esra; Beillard, Emmanuel; Yilmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, Leshon; Castro-Rojas, Derly Liseth; Bueltmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schadlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Glaeser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Boennemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Huelya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
Academic Journal
Zumbaum-Fischer, Franziska; Hartmann, Mechthild; Kotzaeridou, Urania; Mondry, Anne; Resch, Franz; Hoffmann, Georg Friedrich; Friederich, Hans-Christoph
PPmP - Psychotherapie Psychosomatik Medizinische Psychologie; Dec2023, Vol. 73 Issue 12, p510-515, 6p
Academic Journal
Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogoli, Andrea; Zara, Frederico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Melver, Catherine Ward; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Vockley, Catherine Walsh; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L
Brain. 144(12)
Academic Journal
Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Cali, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A.; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B.; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo
Academic Journal
den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan; Banka, Siddharth; Bena, Frederique; Ben-Zeev, Bruria; Bonagura, Vincent; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han; Chew, Hui; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin; Hanebeck, Jennifer; Hehir-Kwa, Jayne; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy; Parker, Michael; Petersen, Andrea; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca; Stegmann, Alexander; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana; Schrier Vergano, Samantha; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon; Vissers, Lisenka
American Journal of Human Genetics. 108(2)
Academic Journal
Zumbaum-Fischer, Franziska; Hartmann, Mechthild; Kotzaeridou, Urania; Mondry, Anne; Resch, Franz; Hoffmann, Georg Friedrich; Friederich, Hans-Christoph
Academic Journal
Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; De Crescenzo, Angelo Harlan; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Buttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christele; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quelin, Chloe; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan KC; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martinez-Cerdeno, Veronica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami
Academic Journal
Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Harlan De Crescenzo, Angelo; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan KC; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami
Brain. 142(9)
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[AR] Kotzaeridou, Urania
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