Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Paul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Bluemlein, Ulrike; Haack, Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni, V; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-11-17T09:28:33Z
dc.date.available	2023-11-17T09:28:33Z
dc.date.issued	2023
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/147835
dc.language.iso	en	en
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2022.11.011
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_01614
utue.publikation.seiten	120-145	de_DE
utue.personen.roh	Paul, Maimuna S.
utue.personen.roh	Duncan, Anna R.
utue.personen.roh	Genetti, Casie A.
utue.personen.roh	Pan, Hongling
utue.personen.roh	Jackson, Adam
utue.personen.roh	Grant, Patricia E.
utue.personen.roh	Shi, Jiahai
utue.personen.roh	Pinelli, Michele
utue.personen.roh	Brunetti-Pierri, Nicola
utue.personen.roh	Garza-Flores, Alexandra
utue.personen.roh	Shahani, Dave
utue.personen.roh	Saneto, Russell P.
utue.personen.roh	Zampino, Giuseppe
utue.personen.roh	Leoni, Chiara
utue.personen.roh	Agolini, Emanuele
utue.personen.roh	Novelli, Antonio
utue.personen.roh	Bluemlein, Ulrike
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Heinritz, Wolfram
utue.personen.roh	Matzker, Eva
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Abou Jamra, Rami
utue.personen.roh	Bartolomaeus, Tobias
utue.personen.roh	AlHamdan, Saber
utue.personen.roh	Carapito, Raphael
utue.personen.roh	Isidor, Bertrand
utue.personen.roh	Bahram, Seiamak
utue.personen.roh	Ritter, Alyssa
utue.personen.roh	Izumi, Kosuke
utue.personen.roh	Shakked, Ben Pode
utue.personen.roh	Barel, Ortal
utue.personen.roh	Ben Zeev, Bruria
utue.personen.roh	Begtrup, Amber
utue.personen.roh	Carere, Deanna Alexis
utue.personen.roh	Mullegama, Sureni, V
utue.personen.roh	Palculict, Timothy Blake
utue.personen.roh	Calame, Daniel G.
utue.personen.roh	Schwan, Katharina
utue.personen.roh	Aycinena, Alicia R. P.
utue.personen.roh	Traberg, Rasa
utue.personen.roh	Douzgou, Sofia
utue.personen.roh	Pirt, Harrison
utue.personen.roh	Ismayilova, Naila
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Chao, Hsiao-Tuan
utue.personen.roh	Agrawal, Pankaj B.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	110	de_DE
utue.fakultaet	04 Medizinische Fakultät