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Browsing 4 Medizinische Fakultät by Author

Browsing 4 Medizinische Fakultät by Author "Bader, Ingrid"

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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; Waldmüller, Stephan (2022)
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

Bader, Ingrid (2022)

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