Fachrepositorium Lebenswissenschaften

3 Treffer

Kurzansicht	E-Jahr	Typ
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome 2021 . Meyer, Robert \| Begemann, Matthias \| Hübner, Christian Thomas \| Dey, Daniela \| Kuechler, Alma \| Elgizouli, Magdeldin \| Schara, Ulrike \| Ambrozaityte, Laima \| Burnyte, Birute \| Schröder, Carmen \| Kenawy, Asmaa \| Kroisel, Peter \| Demuth, Stephanie \| Fekete, Gyorgy \| Opladen, Thomas \| Elbracht, Miriam \| Eggermann, Thomas	2021	http://purl.org/ontology/bibo/Article
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains 2021 . Eggermann, Thomas \| Begemann, Matthias \| Pfeiffer, Lutz	2021	http://purl.org/ontology/bibo/Article
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important 2020 . Eggermann, Thomas \| Brück, Johanna \| Knopp, Cordula \| Fekete, György \| Kratz, Christian \| Tasic, Velibor \| Kurth, Ingo \| Elbracht, Miriam \| Eggermann, Katja \| Begemann, Matthias	2020	http://purl.org/ontology/bibo/Article

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