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

gan Soares, Ana Rita, Figueiredo, Catarina Matos, Quelhas, Dulce, Silva, Ermelinda Santos, Freitas, Joana, Oliveira, Maria João, Faria, Sameiro, Fortuna, Ana Maria, Borges, Teresa
Cyhoeddwyd yn Eur Endocrinol (2020)

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

gan 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.
Cyhoeddwyd 2014