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Browsing Universitätsbibliographie by Author "Bader, Ingrid"

Now showing items 1-2 of 2

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

Bader, Ingrid; Freilinger, M.; Landauer, F.; Waldmueller, S.; Mueller-Felber, W.; Rauscher, C.; Sperl, W.; Bittner, R. E.; Schmidt, W. M.; Mayr, J. A. (2022)
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

Carvalhal, Sara; Bader, Ingrid; Rooimans, Martin A.; Oostra, Anneke B.; Balk, Jesper A.; Feichtinger, Rene G.; Beichler, Christine; Speicher, Michael R.; van Hagen, Johanna M.; Waisfisz, Quinten; van Haelst, Mieke; Bruijn, Martijn; Tavares, Alexandra; Mayr, Johannes A.; Wolthuis, Rob M. F.; Oliveira, Raquel A.; de Lange, Job (2022)

Now showing items 1-2 of 2

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