Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maike Karnstedt"'
Autor:
Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Uniparental disomy (UPD) is the inheritance of both alleles of a chromosome from only one parent. So far, the detection of UPDs in sequencing data is not well established and a known gap in next-generation sequencing (NGS) diagnostics. By developing
Externí odkaz:
https://doaj.org/article/6f91e1c8d10044629367c57e8319a75c
Autor:
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow
Publikováno v:
American Journal of Medical Genetics Part A. 191:469-478
The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X-linked syndromic dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7335cfebc481808448d1ab11f9b9a202
https://doi.org/10.1002/ajmg.a.63044
https://doi.org/10.1002/ajmg.a.63044