Associated Papers
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.
Vaseghi P et al.
European Journal of Human Genetics : Ejhg, 2024
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.
Quaio CR et al.
Genetics and Molecular Research : Gmr, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M et al.
Human Mutation, 2014
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.
Rampersaud E et al.
Progress in Pediatric Cardiology, 2011
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
Elting M et al.
American Journal of Medical Genetics. Part A, 2008
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