Alexandria University / جامعة الإسكندرية‎‎

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis (2023) Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CHW, Buerger F, Hugo H, et al. Journal article Secukinumab in Pediatric Patients with Plaque Psoriasis: Pooled Safety Analysis from Two Phase 3 Randomized Clinical Trials (2023) Sticherling M, Nikkels AF, Hamza AM, Kwong P, Szepietowski JC, El Sayed M, Ghislain PD, et al. Journal article Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract (2022) Wu CHW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, et al. Journal article Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications (2022) Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, et al. Journal article Pooled safety analysis from two phase III studies of secukinumab in paediatric patients with moderate-to-severe plaque psoriasis up to week 52 (2022) Sticherling M, Nikkels AF, Hamza AM, Kwong P, Ortmann CE, Papanastasiou P, Forrer P, Keefe D Conference contribution 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 Protein biomarker discovery using human blood plasma microparticles (2019) Taleb RSZ, Moez P, Younan D, Eisenacher M, Tenbusch M, Sitek B, Bracht T Book chapter / Article in edited volumes 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 identifies causative mutations in families with congenital anomalies of the kidney and urinary tract (2018) Van Der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, 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