Diagnostic genome sequencing improves genetic testing workup in imprinting disorder phenotypes: a retrospective study

Kessler, Luise; Fekete, Gyorgy; Elbracht, Miriam; Kraft, Florian; Kurth, Ingo; Kenawy, Asmaa; Lengyel, Anna; Krause, Jeremias; Knopp, Cordula; Eggermann, Thomas

doi:WOS:001421430503091

Diagnostic genome sequencing improves genetic testing workup in imprinting disorder phenotypes: a retrospective study

Kessler, Luise^RWTH* ; Krause, Jeremias^RWTH* ; Kraft, Florian^RWTH* ; Kenawy, Asmaa ; Fekete, Gyorgy ; Lengyel, Anna ; Knopp, Cordula^RWTH* ; Kurth, Ingo^RWTH* ; Elbracht, Miriam^RWTH* ; Eggermann, Thomas^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.:P15.099.D

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

Umfang1623-1623

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

Institut und Lehrstuhl für Humangenetik und Genommedizin (924610)

Thematische Einordnung (Klassifikation)
DDC: 610

External link:

Homepage of journal

Dokumenttyp
Abstract/Journal Article/Contribution to a conference proceedings

Format
online, print

Sprache
English

Anmerkung
No peer reviewed article

Externe Identnummern
WOS Core Collection: WOS:001421430503091

Interne Identnummern
RWTH-2025-10592
Datensatz-ID: 1023238

Beteiligte Länder
Egypt, Germany, Hungary

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