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

dc.contributor.author	Deininger, Natalie
dc.contributor.author	Hengel, Holger
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2025-12-01T07:28:41Z
dc.date.available	2025-12-01T07:28:41Z
dc.date.issued	2025
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/172710
dc.language.iso	en	de_DE
dc.publisher	New York : Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2024.101347	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250630000000_01547
utue.personen.roh	Talarico, Mariagrazia
utue.personen.roh	de Bellescize, Julitta
utue.personen.roh	De Wachter, Matthias
utue.personen.roh	Le Guillou, Xavier
utue.personen.roh	le Meur, Guylene
utue.personen.roh	Egloff, Matthieu
utue.personen.roh	Isidor, Bertrand
utue.personen.roh	Cogne, Benjamin
utue.personen.roh	Beysen, Diane
utue.personen.roh	Rollier, Paul
utue.personen.roh	Fradin, Melanie
utue.personen.roh	Pasquier, Laurent
utue.personen.roh	Guella, Ilaria
utue.personen.roh	Hickey, Scott E.
utue.personen.roh	Benke, Paul J.
utue.personen.roh	Shillington, Amelle
utue.personen.roh	Kumps, Candy
utue.personen.roh	Vanakker, Olivier
utue.personen.roh	Gerkes, Erica H.
utue.personen.roh	Lakhani, Shenela
utue.personen.roh	Romanova, Irina
utue.personen.roh	Kanivets, Ilya
utue.personen.roh	Brugger, Melanie
utue.personen.roh	Vill, Katharina
utue.personen.roh	Caylor, Raymond C.
utue.personen.roh	Skinner, Cindy
utue.personen.roh	Tinker, Rory J.
utue.personen.roh	Stodberg, Tommy
utue.personen.roh	Numann, Astrid
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Deininger, Natalie
utue.personen.roh	Hengel, Holger
utue.personen.roh	Jury, Jeanne
utue.personen.roh	Conrad, Solene
utue.personen.roh	Mercier, Sandra
utue.personen.roh	Yoon, Grace
utue.personen.roh	Tsuboyama, Melissa
utue.personen.roh	Barcia, Giulia
utue.personen.roh	Gitiaux, Cyril
utue.personen.roh	Rio, Marlene
utue.personen.roh	Bevot, Andrea
utue.personen.roh	Redon, Sylvia
utue.personen.roh	Uguen, Kevin
utue.personen.roh	Wonneberger, Antje
utue.personen.roh	Schulz, Alexander
utue.personen.roh	Timmann, Dagmar
utue.personen.roh	Karlowicz, Danielle Hays
utue.personen.roh	Chatron, Nicolas
utue.personen.roh	Carnevale, Amanda
utue.personen.roh	Mahida, Sonal
utue.personen.roh	Ounap, Katrin
utue.personen.roh	Kury, Sebastien
utue.personen.roh	Cabet, Sara
utue.personen.roh	Lesca, Gaetan
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article 101347	de_DE
dcterms.isPartOf.ZS-Volume	27 (4)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE