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List of works by Mara Sanches Guaragna

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

scientific article

Frasier syndrome: four new cases with unusual presentations.

scientific article published in November 2012

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described

scientific article published on 11 November 2015

NPHS2 Mutations: A Closer Look to Latin American Countries.

scientific article published on 12 July 2017

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

scientific article published on 29 September 2015

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family

scientific article published on 13 September 2019

The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome

scientific article

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria

scientific article published on 22 October 2013

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.

scientific article published on 13 January 2017

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service

scientific article published on 27 June 2019

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