Biallelic loss-of-function variants in IST1 are associated with a complex neurologic disorder

Lischka, Annette; Hasan, Dimah; Maier, Andrea; Kraft, Florian; Elbracht, Miriam; Franken, Lena; Lohmann, Tibor; Kurth, Ingo; Häusler, Martin Georg; Götzl, Rebekka; Eggermann, Katja; Knopp, Cordula; Michalewicz, Emilia

doi:WOS:001421430502374

Biallelic loss-of-function variants in IST1 are associated with a complex neurologic disorder

Lischka, Annette^RWTH* ; Eggermann, Katja^RWTH* ; Maier, Andrea^RWTH* ; Hasan, Dimah^RWTH* ; Franken, Lena^RWTH* ; Michalewicz, Emilia^RWTH* ; Götzl, Rebekka^RWTH* ; Lohmann, Tibor^RWTH* ; Häusler, Martin Georg^RWTH* ; Elbracht, Miriam^RWTH* ; Kurth, Ingo^RWTH* ; Kraft, Florian^RWTH* ; Knopp, Cordula^RWTH*

In
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference

In
European journal of human genetics 32(Supplement 2), Seiten/Artikel-Nr.:P11.096.C

2024

Konferenz/Event:57. Conference of the European-Society-of-Human-Genetics , Berlin , Germany , ESHG 2024 , 2024-06-01 - 2024-06-04

ImpressumBasingstoke : Stockton Press

Umfang1500-1501

ISSN1018-4813

Hybrid poster abstract. - In Artikel: Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters. - Seiten 1231–1841

Online
URL: https://doi.org/10.1038/s41431-024-01734-4

Einrichtungen

Thematische Einordnung (Klassifikation)
DDC: 610

External link:

Homepage of journal

Dokumenttyp
Abstract/Journal Article/Contribution to a conference proceedings

Format
online, print

Sprache
English

Externe Identnummern
WOS Core Collection: WOS:001421430502374

Interne Identnummern
RWTH-2025-10553
Datensatz-ID: 1023195

Beteiligte Länder
Germany

Lizenzstatus der Zeitschrift

; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection