Associated Papers
Myasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.
Al Riyami MS et al.
Clinical Case Reports, 2025
Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia.
Woo HA et al.
Pediatric Transplantation, 2023
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
Bertulli C et al.
International Journal of Molecular Sciences, 2020
A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).
Riaz IB et al.
Frontiers in Immunology, 2019
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
Wang W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2012
Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia.
Basiratnia M et al.
Iranian Journal of Medical Sciences, 2011
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
Yue Z et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Select a paper to view details