Ingrid Bader

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 3

Top Topics

Top Venues

Science advances

BMC medical genetics

Orphanet journal of rare diseases

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

Publications

Sara Carvalhal, Ingrid Bader, Martin A Rooimans, Anneke B Oostra, Jesper A Balk, René Günther Feichtinger, Christine Beichler, Michael R Speicher, Johanna M van Hagen, Quinten Waisfisz, Mieke van Haelst, Martijn Bruijn, Alexandra Tavares, Johannes Adalbert Mayr, Rob M F Wolthuis, Raquel de Vasconcellos Carvalhaes de Oliveira, Job de Lange
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Science advances 8 (3) (2022)
Ingrid Bader, M Freilinger, F Landauer, S Waldmüller, W Mueller-Felber, C Rauscher, W Sperl, R E Bittner, W M Schmidt, J A Mayr
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy. Orphanet journal of rare diseases 17 (1) (2022)
Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A Mayr, Thomas Arnesen
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report. BMC medical genetics 21 (1) (2020)