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4 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Automatized detection of uniparental disomies in a large cohort 2024 . Moch, Johanna \| Radtke, Maximilian \| Liehr, Thomas \| Eggermann, Thomas \| Gilissen, Christian \| Pfundt, Rolph \| Astuti, Galuh \| Hentschel, Julia \| Schumann, Isabell	2024		http://purl.org/ontology/bibo/Article
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci 2024 . Baumann, Alexandra \| Ruckert, Christian \| Meier, Christoph \| Hutschenreiter, Tim \| Remy, Robert \| Schnur, Benedikt \| Döbel, Marvin \| Fankep, Rudel Christian Nkouamedjo \| Skowronek, Dariush \| Kutz, Oliver \| Arnold, Norbert \| Katzke, Anna-Lena \| Forster, Michael \| Kobiela, Anna-Lena \| Thiedig, Katharina \| Zimmer, Andreas \| Ritter, Julia \| Weber, Bernhard H.F. \| Honisch, Ellen \| Hackmann, Karl \| Bioinformatics Working Group of the German Consortium for Hereditary Breast \| Drukewitz, Stephan \| Engel, Christoph \| Frommolt, Peter \| Groß, Eva \| Helmuth, Johannes \| Kowalzyk, Zarah \| Radtke, Maximilian \| Ramser, Juliane \| Uebe, Steffen \| Wang-Gohrke, Shan \| Schmidt, Gunnar \| Sturm, Marc \| Ernst, Corinna	2024		http://purl.org/ontology/bibo/Article
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders 2021 . Klau, Julia \| Abou Jamra, Rami \| Radtke, Maximilian \| Oppermann, Henry \| Lemke, Johannes \| Beblo, Skadi \| Popp, Bernt	2021		http://purl.org/ontology/bibo/Article
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain 2021 . Neuser, Sonja \| krey, ilona \| Schwan, Annemarie \| Abou Jamra, Rami \| Bartolomaeus, Tobias \| Döring, Jan \| Syrbe, Steffen \| Plassmann, Margit \| Rohde, Stefan \| Roth, Christian \| Rehder, Helga \| Radtke, Maximilian \| Le Duc, Diana \| Schubert, Susanna \| Bermudez-Guzman, Luis \| Leal, Alejandro \| Schoner, Katharina \| Popp, Bernt	2021		http://purl.org/ontology/bibo/Article