RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

Talarico, Mariagrazia; de Bellescize, Julitta; De Wachter, Matthias; Le Guillou, Xavier; le Meur, Guylene; Egloff, Matthieu; Isidor, Bertrand; Cogne, Benjamin; Beysen, Diane; Rollier, Paul; Fradin, Melanie; Pasquier, Laurent; Guella, Ilaria; Hickey, Scott E.; Benke, Paul J.; Shillington, Amelle; Kumps, Candy; Vanakker, Olivier; Gerkes, Erica H.; Lakhani, Shenela; Romanova, Irina; Kanivets, Ilya; Brugger, Melanie; Vill, Katharina; Caylor, Raymond C.; Skinner, Cindy; Tinker, Rory J.; Stodberg, Tommy; Numann, Astrid; Haack, Tobias B.; Deininger, Natalie; Hengel, Holger; Jury, Jeanne; Conrad, Solene; Mercier, Sandra; Yoon, Grace; Tsuboyama, Melissa; Barcia, Giulia; Gitiaux, Cyril; Rio, Marlene; Bevot, Andrea; Redon, Sylvia; Uguen, Kevin; Wonneberger, Antje; Schulz, Alexander; Timmann, Dagmar; Karlowicz, Danielle Hays; Chatron, Nicolas; Carnevale, Amanda; Mahida, Sonal; Ounap, Katrin; Kury, Sebastien; Cabet, Sara; Lesca, Gaetan

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

Autor(en):

Talarico, Mariagrazia; de Bellescize, Julitta; De Wachter, Matthias; Le Guillou, Xavier; le Meur, Guylene; Egloff, Matthieu; Isidor, Bertrand; Cogne, Benjamin; Beysen, Diane; Rollier, Paul; Fradin, Melanie; Pasquier, Laurent; Guella, Ilaria; Hickey, Scott E.; Benke, Paul J.; Shillington, Amelle; Kumps, Candy; Vanakker, Olivier; Gerkes, Erica H.; Lakhani, Shenela; Romanova, Irina; Kanivets, Ilya; Brugger, Melanie; Vill, Katharina; Caylor, Raymond C.; Skinner, Cindy; Tinker, Rory J.; Stodberg, Tommy; Numann, Astrid; Haack, Tobias B.; Deininger, Natalie; Hengel, Holger; Jury, Jeanne; Conrad, Solene; Mercier, Sandra; Yoon, Grace; Tsuboyama, Melissa; Barcia, Giulia; Gitiaux, Cyril; Rio, Marlene; Bevot, Andrea; Redon, Sylvia; Uguen, Kevin; Wonneberger, Antje; Schulz, Alexander; Timmann, Dagmar; Karlowicz, Danielle Hays; Chatron, Nicolas; Carnevale, Amanda; Mahida, Sonal; Ounap, Katrin; Kury, Sebastien; Cabet, Sara; Lesca, Gaetan

Tübinger Autor(en):

Deininger, Natalie
Hengel, Holger
Haack, Tobias

Erschienen in:

Genetics in Medicine (2025), Bd. 27 (4), Article 101347

Verlagsangabe:

New York : Elsevier Science Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.gim.2024.101347

ISSN:

1098-3600