Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; McCullagh, Gary; Millichap, John J.; Carvill, Gemma L.; Clayton-Smith, Jill; Maher, Eamonn R.; Raymond, F. Lucy; Kurian, Manju A.

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-04-16T08:00:53Z
dc.date.available	2020-04-16T08:00:53Z
dc.date.issued	2019
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/99587
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2019.03.005	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_01419
utue.publikation.seiten	948-956	de_DE
utue.personen.roh	Gorman, Kathleen M.
utue.personen.roh	Meyer, Esther
utue.personen.roh	Grozeva, Detelina
utue.personen.roh	Spinelli, Egidio
utue.personen.roh	McTague, Amy
utue.personen.roh	Sanchis-Juan, Alba
utue.personen.roh	Carss, Keren J.
utue.personen.roh	Bryant, Emily
utue.personen.roh	Reich, Adi
utue.personen.roh	Schneider, Amy L.
utue.personen.roh	Pressler, Ronit M.
utue.personen.roh	Simpson, Michael A.
utue.personen.roh	Debelle, Geoff D.
utue.personen.roh	Wassmer, Evangeline
utue.personen.roh	Morton, Jenny
utue.personen.roh	Sieciechowicz, Diana
utue.personen.roh	Jan-Kamsteeg, Eric
utue.personen.roh	Paciorkowski, Alex R.
utue.personen.roh	King, Mary D.
utue.personen.roh	Cross, J. Helen
utue.personen.roh	Poduri, Annapurna
utue.personen.roh	Mefford, Heather C.
utue.personen.roh	Scheffer, Ingrid E.
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	McCullagh, Gary
utue.personen.roh	Millichap, John J.
utue.personen.roh	Carvill, Gemma L.
utue.personen.roh	Clayton-Smith, Jill
utue.personen.roh	Maher, Eamonn R.
utue.personen.roh	Raymond, F. Lucy
utue.personen.roh	Kurian, Manju A.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	104	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE