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Bartolomaeus Tobias (Tobias Bartolomaeus)

ORCID

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 4

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Bartolomaeus Tobias, Julia Hentschel, Rami Abou Jamra, Bernt Popp
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18. European journal of human genetics : EJHG (2023)
Bernt Popp, Melanie Brugger, Sibylle Poschmann, Bartolomaeus Tobias, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek-Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R Lemke, Thomas Meitinger, Rami Abou Jamra, Vincent Strehlow, Theresa Brunet
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clinical genetics (2022)
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
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder. American journal of medical genetics. Part A (2022)
Sonja Neuser, Ilona Krey, Annemarie Schwan, Rami Abou Jamra, Bartolomaeus Tobias, Jan Döring, Steffen Syrbe, Margit Plassmann, Stefan Rohde, Christian Roth, Helga Rehder, Maximilian Radtke, Diana Le Duc, Susanna Schubert, Luis Bermúdez-Guzmán, Alejandro Leal, Katharina Schoner, Bernt Popp
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain. European journal of human genetics : EJHG (2021)

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Publication Activity (10 Years)

Top Topics

Top Venues

Bartolomaeus Tobias (Tobias Bartolomaeus)