학술논문
'학술논문'
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Academic Journal
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulić, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; La Morgia, Chiara; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sørensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Abou Jamra, Rami; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias
In The American Journal of Human Genetics 7 March 2024 111(3):594-613
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Reijnders, Margot R.F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J.C.; Ott, Torsten; Klaas, Oliver; Horváth, Judit; Rose, Ailsa M.S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J.T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P.A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle; Bryant, Emily; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen; Friedman, Jennifer; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn; Owens, Joshua; Husami, Ammar; Chaudhari, Bimal; Stone, Brandon; Burns, Katie; Li, Rachel; de Lange, Iris; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf; Trimouille, Aurélien; Argilli, Emanuela
Journal of Medical Genetics. 60(10)
Academic Journal
Blaschek, Astrid; Sitzberger, Alexandra; Brugger, Melanie; Graf, Elisabeth; Berutti, Riccardo; Zech, Michael; Vill, Katharina
In Parkinsonism and Related Disorders April 2023 109
Academic Journal
Krenn, Martin; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Jäger, Fiona; Keritam, Omar; Sener, Merve; Brücke, Christof; Milenkovic, Ivan; Langer, Agnes; Buchinger, Dominic; Habersam, Richard; Mayerhanser, Katharina; Brugger, Melanie; Brunet, Theresa; Jacob, Maureen; Graf, Elisabeth; Berutti, Riccardo; Cetin, Hakan; Hoefele, Julia
Academic Journal
Fahmi, Amal; Brügger, Melanie; Démoulins, Thomas; Zumkehr, Beatrice; Oliveira Esteves, Blandina I.; Bracher, Lisamaria; Wotzkow, Carlos; Blank, Fabian; Thiel, Volker; Baud, David; Alves, Marco P.
In Cell Reports Medicine 21 December 2021 2(12)
Academic Journal
Jacob, Maureen; Brugger, Melanie; Andres, Stephanie; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Tilch, Erik; Pavlov, Martin; Mayerhanser, Katharina; Hoefele, Julia; Meitinger, Thomas; Winkelmann, Juliane; Brunet, Theresa
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
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