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Journal Article
Bamborschke, Daniel, Oezdemir, Oezkan, Kreutzer, Mona, Motameny, Susanne, Thiele, Holger 
ORCID: 0000-0002-0169-998X, Kribs, Angela, Dötsch, Jörg ORCID: 0000-0003-1529-7647, Altmüller, Janine ORCID: 0000-0003-4372-1521, Nürnberg, Peter ORCID: 0000-0002-7228-428X and Cirak, Sebahattin
(2021).
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Am. J. Med. Genet. A, 185 (1).
90 - 97.
HOBOKEN:
WILEY.
ISSN 1552-4833
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
