Search Results - Bertini, Enrico

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity by Kalm, Tassja (Author) , Schob, Claudia (Author) , Völler, Hanna (Author) , Gardeitchik, Thatjana (Author) , Gilissen, Christian (Author) , Pfundt, Rolph (Author) , Klöckner, Chiara (Author) , Platzer, Konrad (Author) , Klabunde-Cherwon, Annick (Author) , Ries, Markus (Author) , Syrbe, Steffen (Author) , Beccaria, Francesca (Author) , Madia, Francesca (Author) , Scala, Marcello (Author) , Zara, Federico (Author) , Hofstede, Floris (Author) , Simon, Marleen E. H. (Author) , Jaarsveld, Richard H. van (Author) , Oegema, Renske (Author) , Gassen, Koen L. I. van (Author) , Holwerda, Sjoerd J. B. (Author) , Barakat, Tahsin Stefan (Author) , Bouman, Arjan (Author) , Slegtenhorst, Marjon van (Author) , Álvarez, Sara (Author) , Fernández-Jaén, Alberto (Author) , Porta, Javier (Author) , Accogli, Andrea (Author) , Mancardi, Margherita Maria (Author) , Striano, Pasquale (Author) , Iacomino, Michele (Author) , Chae, Jong-Hee (Author) , Jang, SeSong (Author) , Kim, Soo Y. (Author) , Chitayat, David (Author) , Mercimek-Andrews, Saadet (Author) , Depienne, Christel (Author) , Kampmeier, Antje (Author) , Kuechler, Alma (Author) , Surowy, Harald (Author) , Bertini, Enrico Silvio (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Pizzi, Simone (Author) , Tartaglia, Marco (Author) , Gauthier, Lucas (Author) , Genevieve, David (Author) , Tharreau, Mylène (Author) , Azoulay, Noy (Author) , Zaks-Hoffer, Gal (Author) , Gilad, Nesia K. (Author) , Orenstein, Naama (Author) , Bernard, Geneviève (Author) , Thiffault, Isabelle (Author) , Denecke, Jonas (Author) , Herget, Theresia (Author) , Kortüm, Fanny (Author) , Kubisch, Christian (Author) , Bähring, Robert (Author) , Kindler, Stefan (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

The ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias by Traschütz, Andreas (Author) , Reich, Selina (Author) , Adarmes, Astrid D. (Author) , Anheim, Mathieu (Author) , Ashrafi, Mahmoud Reza (Author) , Baets, Jonathan (Author) , Basak, A. Nazli (Author) , Bertini, Enrico (Author) , Brais, Bernard (Author) , Gagnon, Cynthia (Author) , Gburek-Augustat, Janina (Author) , Hanagasi, Hasmet A. (Author) , Heinzmann, Anna Constanze (Author) , Horvath, Rita (Author) , Jonghe, Peter de (Author) , Kamm, Christoph (Author) , Klivenyi, Peter (Author) , Klopstock, Thomas (Author) , Minnerop, Martina (Author) , Münchau, Alexander (Author) , Renaud, Mathilde (Author) , Roxburgh, Richard H. (Author) , Santorelli, Filippo M. (Author) , Schirinzi, Tommaso (Author) , Sival, Deborah A. (Author) , Timmann-Braun, Dagmar (Author) , Vielhaber, Stefan (Author) , Wallner, Michael (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Zanni, Ginevra (Author) , Züchner, Stephan (Author) , Klockgether, Thomas (Author) , Schüle-Freyer, Rebecca (Author) , Schöls, Ludger (Author) , Synofzik, Matthis (Author) ,

• Resolving-System, kostenfrei

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy by Cullup, Thomas (Author) , Kho, Ay L. (Author) , Dionisi-Vici, Carlo (Author) , Brandmeier, Birgit (Author) , Smith, Frances (Author) , Urry, Zoe (Author) , Simpson, Michael A. (Author) , Yau, Shu (Author) , Bertini, Enrico (Author) , McClelland, Verity (Author) , Al-Owain, Mohammed (Author) , Kölker, Stefan (Author) , Körner, Christian (Author) , Hoffmann, Georg F. (Author) , Wijburg, Frits A. (Author) , Hoedt, Amber E. ten (Author) , Rogers, Curtis (Author) , Manchester, David (Author) , Miyata, Rie (Author) , Hayashi, Masaharu (Author) , Said, Elizabeth (Author) , Soler, Doriette (Author) , Kroisel, Peter M. (Author) , Windpassinger, Christian (Author) , Filloux, Francis M. (Author) , Al-Kaabi, Salwa (Author) , Hertecant, Jozef (Author) , Del Campo, Miguel (Author) , Buk, Stefan (Author) , Bodi, Istvan (Author) , Goebel, Hans-Hilmar (Author) , Sewry, Caroline A. (Author) , Abbs, Stephen (Author) , Mohammed, Shehla (Author) , Josifova, Dragana (Author) , Gautel, Mathias (Author) , Jungbluth, Heinz (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext