Publications

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Author Title [ Year(Desc)]
Filters: Author is Pode-Shakked, Ben  [Clear All Filters]
2017
Vivante, A. et al. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatr Nephrol 32, 2273-2282 (2017).
2019
Vivante, A. et al. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatr Nephrol 34, 1607-1613 (2019).
Staretz-Chacham, O. et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
2021
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).