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List of works by Caio Robledo D'Angioli Costa Quaio

A DominantABCC8-Related Hyperinsulinism: Familial Case ReportMoreiraet al.ABCC8-Related Hyperinsulinism

scientific article published on 10 January 2013

A Possible Role of Different PTPN Genes in Immune Regulation

article

Aspects of atherosclerosis and metabolic syndrome in lupus erythematosus

scientific article published on July 2010

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

scientific article published on 09 April 2012

Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation

scientific article published on 28 August 2018

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

scientific article published on 09 June 2014

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

scientific article published on May 2016

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.

scientific article

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

scientific article published on 30 November 2020

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports

scientific article published on 30 December 2013

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

scientific article published on 19 September 2017

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

scientific article published on 02 October 2014

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

article

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries

scientific article published on 16 March 2015

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

scientific article

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

scientific article

Tegumentary manifestations of Noonan and Noonan-related syndromes.

scientific article published on January 2013

The first cardiac transplant experience in a patient with mucopolysaccharidosis

scientific article published on 06 December 2011

Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation

article

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