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List of works by Rosangela Artuso

Advances in Alport syndrome diagnosis using next-generation sequencing

scientific article published on 7 September 2011

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

scientific article published on 2 September 2010

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

scientific article published on 7 January 2009

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

scientific article published on 19 September 2016

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

scientific article published on 10 April 2009

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

scientific article published on 23 July 2012

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

scientific article published on 12 May 2010

Is complement alternative pathway disregulation involved in veno-occlusive disease of the liver?

scientific article published on 19 September 2010

Italian Rett database and biobank.

scientific article published in April 2007

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

scientific article published on 01 December 2007

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

scholarly article

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

scientific article published on 2 July 2009

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

scientific article published on 12 December 2019

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

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