Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

per Romanelli Tavares, Vanessa L., Kague, Erika, Musso, Camila M., Alegria, Thiago G.P., Freitas, Renato S., Bertola, Debora R., Twigg, Stephen R.F., Passos-Bueno, Maria R.
Publicat a Mol Syndromol (2019)

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

per Romanelli Tavares, Vanessa L, Gordon, Christopher T, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy Mizue, Voisin, Norine, Tan, Tiong Y, Heggie, Andrew A, Vendramini-Pittoli, Siulan, Propst, Evan J, Papsin, Blake C, Torres, Tatiana T, Buermans, Henk, Capelo, Luciane Portas, den Dunnen, Johan T, Guion-Almeida, Maria L, Lyonnet, Stanislas, Amiel, Jeanne, Passos-Bueno, Maria Rita
Publicat a Eur J Hum Genet (2015)