Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B.

dc.contributor.author	Grimmel, Mona
dc.contributor.author	Grasshoff, Ute
dc.contributor.author	Gauck, Darja
dc.contributor.author	Heinrich, Tilman
dc.contributor.author	Prodan, Natalia
dc.contributor.author	Park, Joohyun
dc.contributor.author	Kehrer, Martin
dc.contributor.author	Sturm, Marc
dc.contributor.author	Kelemen, Olga
dc.contributor.author	Haen, Susanne
dc.contributor.author	Hoopmann, Markus
dc.contributor.author	Ossowski, Stephan
dc.contributor.author	Dufke, Andreas
dc.contributor.author	Falb, Ruth
dc.contributor.author	Müller, Amelie Johanna
dc.contributor.author	Stöbe, Petra
dc.contributor.author	Waldmüller, Stephan
dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Rieß, Olaf
dc.contributor.author	Kagan, Karl Oliver
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-11-06T07:14:56Z
dc.date.available	2023-11-06T07:14:56Z
dc.date.issued	2023
dc.identifier.issn	0022-2593
dc.identifier.uri	http://hdl.handle.net/10900/147121
dc.language.iso	en	de_DE
dc.publisher	Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jmedgenet-2021-108064	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_02176
utue.publikation.seiten	48-56	de_DE
utue.personen.roh	Falb, Ruth J.
utue.personen.roh	Mueller, Amelie J.
utue.personen.roh	Klein, Wolfram
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Grasshoff, Ute
utue.personen.roh	Spranger, Stephanie
utue.personen.roh	Stoebe, Petra
utue.personen.roh	Gauck, Darja
utue.personen.roh	Kuechler, Alma
utue.personen.roh	Dikow, Nicola
utue.personen.roh	Schwaibold, Eva M. C.
utue.personen.roh	Schmidt, Christoph
utue.personen.roh	Averdunk, Luisa
utue.personen.roh	Buchert, Rebecca
utue.personen.roh	Heinrich, Tilman
utue.personen.roh	Prodan, Natalia
utue.personen.roh	Park, Joohyun
utue.personen.roh	Kehrer, Martin
utue.personen.roh	Sturm, Marc
utue.personen.roh	Kelemen, Olga
utue.personen.roh	Hartmann, Silke
utue.personen.roh	Horn, Denise
utue.personen.roh	Emmerich, Dirk
utue.personen.roh	Hirt, Nina
utue.personen.roh	Neumann, Armin
utue.personen.roh	Kristiansen, Glen
utue.personen.roh	Gembruch, Ulrich
utue.personen.roh	Haen, Susanne
utue.personen.roh	Siebert, Reiner
utue.personen.roh	Hentze, Sabine
utue.personen.roh	Hoopmann, Markus
utue.personen.roh	Ossowski, Stephan
utue.personen.roh	Waldmueller, Stephan
utue.personen.roh	Beck-Woedl, Stefanie
utue.personen.roh	Glaeser, Dieter
utue.personen.roh	Tekesin, Ismail
utue.personen.roh	Distelmaier, Felix
utue.personen.roh	Riess, Olaf
utue.personen.roh	Kagan, Karl-Oliver
utue.personen.roh	Dufke, Andreas
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	60	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE