Search Results - Accogli, Andrea

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

A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children by Scorrano, Giovanna (Author) , D'Onofrio, Gianluca (Author) , Accogli, Andrea (Author) , Severino, Mariasavina (Author) , Buchert, Rebecca (Author) , Kotzaeridou, Urania (Author) , Iapadre, Giulia (Author) , Farello, Giovanni (Author) , Iacomino, Michele (Author) , Dono, Fedele (Author) , Di Francesco, Ludovica (Author) , Fiorile, Maria Francesca (Author) , La Bella, Saverio (Author) , Corsello, Antonio (Author) , Calì, Elisa (Author) , Di Rosa, Gabriella (Author) , Gitto, Eloisa (Author) , Verrotti, Alberto (Author) , Fortuna, Sara (Author) , Soler, Miguel A. (Author) , Chiarelli, Francesco (Author) , Oehl-Jaschkowitz, Barbara (Author) , Haack, Tobias B. (Author) , Zara, Federico (Author) , Striano, Pasquale (Author) , Salpietro, Vincenzo (Author) ,

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

Biallelic PI4KA variants cause neurological, intestinal and immunological disease by Salter, Claire G. (Author) , Cai, Yiying (Author) , Lo, Bernice (Author) , Helman, Guy (Author) , Taylor, Henry (Author) , McCartney, Amber (Author) , Leslie, Joseph S (Author) , Accogli, Andrea (Author) , Zara, Federico (Author) , Traverso, Monica (Author) , Fasham, James (Author) , Lees, Joshua A (Author) , Ferla, Matteo P (Author) , Chioza, Barry A (Author) , Wenger, Olivia (Author) , Scott, Ethan (Author) , Cross, Harold E (Author) , Crawford, Joanna (Author) , Warshawsky, Ilka (Author) , Keisling, Matthew (Author) , Agamanolis, Dimitris (Author) , Ward Melver, Catherine (Author) , Cox, Helen (Author) , Elawad, Mamoun (Author) , Marton, Tamas (Author) , Wakeling, Matthew N (Author) , Holzinger, Dirk (Author) , Tippelt, Stephan (Author) , Munteanu, Martin (Author) , Valcheva, Deyana (Author) , Deal, Christin (Author) , Van Meerbeke, Sara (Author) , Walsh Vockley, Catherine (Author) , Butte, Manish J (Author) , Acar, Utkucan (Author) , van der Knaap, Marjo S (Author) , Korenke, Christoph (Author) , Kotzaeridou, Urania (Author) , Balla, Tamas (Author) , Simons, Cas (Author) , Uhlig, Holm H (Author) , Crosby, Andrew H (Author) , De Camilli, Pietro (Author) , Wolf, Nicole I (Author) , Baple, Emma L (Author) ,

• Resolving-System, kostenfrei
• Verlag, lizenzpflichtig, Volltext