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

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

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

द्वारा 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.
प्रकाशित 2014