Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

por Bowden, Sasigarn A., Cozzi, Corin, Hickey, Scott E., Thrush, Devon Lamb, Astbury, Caroline, Nuthakki, Sushma
Publicado 2013

Variability in pathogenicity prediction programs: impact on clinical diagnostics

por Walters-Sen, Lauren C, Hashimoto, Sayaka, Thrush, Devon Lamb, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, Pyatt, Robert E
Publicado 2015