Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI

por Ferrarini, Eleonora, De Marco, Giuseppina, Orsolini, Francesca, Gianetti, Elena, Benelli, Elena, Fruzzetti, Franca, Simoncini, Tommaso, Agretti, Patrizia, Tonacchera, Massimo
Publicado no J Ovarian Res (2021)

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism

por Vincenzi, Monica, Camilot, Marta, Ferrarini, Eleonora, Teofoli, Francesca, Venturi, Giacomo, Gaudino, Rossella, Cavarzere, Paolo, De Marco, Giuseppina, Agretti, Patrizia, Dimida, Antonio, Tonacchera, Massimo, Boner, Attilio, Antoniazzi, Franco
Publicado em 2014