Browsing by Subject missense mutation
Showing results 1 to 1 of 1
| Issue Date | Title | Author(s) |
| 2016 | A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development | de Silva, K.S.H.; Bashamboo, Anu; Donohoue, Patricia A.; Vilain, Eric; Rojo, Sandra; Calvel, Pierre; Seneviratne, Sumudu N.; Buonocore, Federica; Barseghyan, Hayk; Bingham, Nathan; Rosenfeld, Jill A.; Mulukutla, Surya Narayan; Jain, Mahim; Burrage, Lindsay; Dhar, Shweta; Balasubramanyam, Ashok; Lee, Brendan; Members of UDN; Dumargne, Marie-Charlotte; Eozenou, Caroline; Suntharalingham, Jenifer P.; Lin, Lin; Bignon-Topalovic, Joelle; Poulat, Francis; Lagos, Carlos F.; McElreavey, Ken; Achermann, John C. |
