Browsing by Author "Wilbe, Maria"

Depósito Digital UFV

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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature.
Gudmundsson, Sanna; Annéren, Göran; Marcos Alcalde, Íñigo; Wilbe, Maria; Melin, Malin; Gómez-Puertas, Paulino; Bondeson, Marie-Louise (European Journal of Medical Genetics, 2019)