Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

por Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Schoefer, Christian, Laccone, Franco, Feil, Patricia, Frei, Klemens, Lucas, Trevor
Publicado 2021

Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH)

por Raimann, Adalbert, Mehany, Sarah N., Feil, Patricia, Weber, Michael, Pietschmann, Peter, Boni-Mikats, Andrea, Klepochova, Radka, Krššák, Martin, Häusler, Gabriele, Schneider, Johannes, Patsch, Janina M., Raum, Kay
Publicado 2020