Universität zu Köln

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Kohl, Stefan, Reusch, Björn ORCID: 0000-0002-8963-6835, Wenzel, Andrea ORCID: 0009-0005-3280-0947, Walsh, Stephen, Thiele, Holger ORCID: 0000-0003-4495-4597, Becker, Christian ORCID: 0009-0002-2964-4486, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Kukat, Christian ORCID: 0000-0003-1508-0229, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter ORCID: 0000-0002-7228-428X, Rinschen, Markus M, Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno ORCID: 0000-0001-7165-1714, Bockenhauer, Detlef, Beck, Bodo Bernhard ORCID: 0000-0003-0495-7670 and Altmüller, Janine ORCID: 0000-0003-4372-1521 (2023). Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome Medicine, 15 (1). p. 62. Springer Nature. ISSN 1756-994X

PDF s13073-023-01215-1.pdf Bereitstellung unter der CC-Lizenz: Creative Commons Attribution. Download (2MB)

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Tschernoster, Nikolai UNSPECIFIED orcid.org/0000-0002-6058-9342 UNSPECIFIED Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Kohl, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED Reusch, Björn bjoern.reusch@uk-koeln.de orcid.org/0000-0002-8963-6835 UNSPECIFIED Wenzel, Andrea UNSPECIFIED orcid.org/0009-0005-3280-0947 UNSPECIFIED Walsh, Stephen UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED orcid.org/0000-0003-4495-4597 UNSPECIFIED Becker, Christian UNSPECIFIED orcid.org/0009-0002-2964-4486 UNSPECIFIED Franitza, Marek UNSPECIFIED UNSPECIFIED UNSPECIFIED Bartram, Malte P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kömhoff, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Schumacher, Anna-Lena UNSPECIFIED orcid.org/0000-0001-7739-486X UNSPECIFIED Kukat, Christian UNSPECIFIED orcid.org/0000-0003-1508-0229 UNSPECIFIED Borodina, Tatiana UNSPECIFIED UNSPECIFIED UNSPECIFIED Quedenau, Claudia UNSPECIFIED UNSPECIFIED UNSPECIFIED Nürnberg, Peter UNSPECIFIED orcid.org/0000-0002-7228-428X UNSPECIFIED Rinschen, Markus M UNSPECIFIED UNSPECIFIED UNSPECIFIED Driller, Jan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pedersen, Bjørn P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schlingmann, Karl P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hüttel, Bruno UNSPECIFIED orcid.org/0000-0001-7165-1714 UNSPECIFIED Bockenhauer, Detlef UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo Bernhard UNSPECIFIED orcid.org/0000-0003-0495-7670 UNSPECIFIED Altmüller, Janine UNSPECIFIED orcid.org/0000-0003-4372-1521 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-782423
DOI:	10.1186/s13073-023-01215-1
Journal or Publication Title:	Genome Medicine
Volume:	15
Number:	1
Page Range:	p. 62
Date:	2023
Publisher:	Springer Nature
ISSN:	1756-994X
Language:	English
Faculty:	Central Institutions / Interdisciplinary Research Centers Faculty of Medicine
Divisions:	Außeruniversitäre Forschungseinrichtungen > MPI for Biology of Ageing Außeruniversitäre Forschungseinrichtungen > MPI for Plant Breeding Research CECAD - Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases Cologne Center for Genomics Faculty of Medicine > Humangenetik > Institut für Humangenetik Faculty of Medicine > Kinder- und Jugendmedizin Zentrum für Molekulare Medizin
Subjects:	Life sciences Medical sciences Medicine
Open access funding:	OAPK DFG 2022-2024
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/78242