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List of works by Aldesia Provenzano

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

article

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

scientific article

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression

scientific article

Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

scientific article published on 7 January 2015

Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?

scientific article published on 21 May 2016

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

scientific article

Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis.

scientific article published on 19 June 2016

Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

scientific article published on 12 December 2019

Ruxolitinib is an effective treatment forCALR-positive patients with myelofibrosis

scientific article published on 25 August 2015

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

scientific article

Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes

scientific article published on 22 July 2014

Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis

scientific article published on 09 August 2010

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