Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

DSpace Repository

Show simple item record

dc.contributor.author Hengel, Holger
dc.contributor.author Hannan, Shabab B.
dc.contributor.author Riess, Angelika
dc.contributor.author Schuster, Stefanie
dc.contributor.author Hauser, Stefan
dc.contributor.author Admard, Jakob
dc.contributor.author Casadei, Nicolas
dc.contributor.author Velic, Ana
dc.contributor.author Macek, Boris
dc.contributor.author Ossowski, Stephan
dc.contributor.author Haack, Tobias
dc.contributor.author Nägele, Thomas
dc.contributor.author Schöls, Ludger
dc.date.accessioned 2021-11-09T12:32:00Z
dc.date.available 2021-11-09T12:32:00Z
dc.date.issued 2021
dc.identifier.issn 1537-6605
dc.identifier.uri http://hdl.handle.net/10900/120593
dc.language.iso en de_DE
dc.publisher Cell Press de_DE
dc.relation.uri http://dx.doi.org/10.1016/j.ajhg.2021.04.024 de_DE
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder de_DE
dc.type Article de_DE
utue.quellen.id 20210824232002_00795
utue.publikation.seiten 1069-1082 de_DE
utue.personen.roh Hengel, Holger
utue.personen.roh Hannan, Shabab B.
utue.personen.roh Dyack, Sarah
utue.personen.roh MacKay, Sara B.
utue.personen.roh Schatz, Ulrich
utue.personen.roh Fleger, Martin
utue.personen.roh Kurringer, Andreas
utue.personen.roh Balousha, Ghassan
utue.personen.roh Ghanim, Zaid
utue.personen.roh Alkuraya, Fowzan S.
utue.personen.roh Alzaidan, Hamad
utue.personen.roh Alsaif, Hessa S.
utue.personen.roh Mitani, Tadahiro
utue.personen.roh Bozdogan, Sevcan
utue.personen.roh Pehlivan, Davut
utue.personen.roh Lupski, James R.
utue.personen.roh Gleeson, Joseph J.
utue.personen.roh Dehghani, Mohammadreza
utue.personen.roh Mehrjardi, Mohammad Y., V
utue.personen.roh Sherr, Elliott H.
utue.personen.roh Parks, Kendall C.
utue.personen.roh Argilli, Emanuela
utue.personen.roh Begtrup, Amber
utue.personen.roh Galehdari, Hamid
utue.personen.roh Balousha, Osama
utue.personen.roh Shariati, Gholamreza
utue.personen.roh Mazaheri, Neda
utue.personen.roh Malamiri, Reza A.
utue.personen.roh Pagnamenta, Alistair T.
utue.personen.roh Kingston, Helen
utue.personen.roh Banka, Siddharth
utue.personen.roh Jackson, Adam
utue.personen.roh Osmond, Mathew
utue.personen.roh Riess, Angelika
utue.personen.roh Haack, Tobias B.
utue.personen.roh Naegele, Thomas
utue.personen.roh Schuster, Stefanie
utue.personen.roh Hauser, Stefan
utue.personen.roh Admard, Jakob
utue.personen.roh Casadei, Nicolas
utue.personen.roh Velic, Ana
utue.personen.roh Macek, Boris
utue.personen.roh Ossowski, Stephan
utue.personen.roh Houlden, Henry
utue.personen.roh Maroofian, Reza
utue.personen.roh Schoels, Ludger
dcterms.isPartOf.ZSTitelID American Journal of Human Genetics de_DE
dcterms.isPartOf.ZS-Issue 6 de_DE
dcterms.isPartOf.ZS-Volume 108 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE
utue.fakultaet 07 Mathematisch-Naturwissenschaftliche Fakultät de_DE


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record