Sindh Institute of Urology and Transplantation

Research facility

Location: , Pakistan (PK)

ROR: https://ror.org/0524z5q72

Publications

(4)

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis (2020) Jobst-Schwan T, Klambt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, et al. Journal article Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome (2018) Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, et al. Journal article Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis (2018) Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, et al. Journal article Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency (2017) Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, et al. Journal article