about
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeReport of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).Tegumentary manifestations of Noonan and Noonan-related syndromes.Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.[Aspects of atherosclerosis and metabolic syndrome in lupus erythematosus].Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registriesLipoid proteinosis: Rare case confirmed by ECM1 mutation detectionMucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvementA DominantABCC8-Related Hyperinsulinism: Familial Case ReportMoreiraet al.ABCC8-Related HyperinsulinismVertical transmission of a frontonasal phenotype caused by a novelALX4mutationA Possible Role of Different PTPN Genes in Immune RegulationAutoimmune disease and multiple autoantibodies in 42 patients with RASopathiesThe first cardiac transplant experience in a patient with mucopolysaccharidosisBiochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Caio Robledo D'Angioli Costa Quaio
@en
Caio Robledo D'Angioli Costa Quaio
@nl
type
label
Caio Robledo D'Angioli Costa Quaio
@en
Caio Robledo D'Angioli Costa Quaio
@nl
prefLabel
Caio Robledo D'Angioli Costa Quaio
@en
Caio Robledo D'Angioli Costa Quaio
@nl
P31
P496
0000-0003-2873-2820