Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

著者: Soares, Ana Rita, Figueiredo, Catarina Matos, Quelhas, Dulce, Silva, Ermelinda Santos, Freitas, Joana, Oliveira, Maria João, Faria, Sameiro, Fortuna, Ana Maria, Borges, Teresa
出版年 Eur Endocrinol (2020)

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

著者: Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.
出版事項 2014