Sindh Institute of Urology and Transplantation

Research facility


Location: , Pakistan (PK) PK

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

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

From
To

Abstract

Journal

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