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List of works by Flavia de Paula

A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta

scientific article published on 17 February 2009

ATM, BCL2, and TGFβ Gene Polymorphisms as Radiotherapy Outcome Biomarkers in Head and Neck Squamous Cell Carcinoma Patients

scientific article published on 14 November 2017

An association study of FOXO3 variant and longevity

scientific article published on 01 April 2018

Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta

scientific article published on 2 September 2016

Association study of the BIN1 and IL-6 genes on Alzheimer's disease

scientific article

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

article

Calpainopathy: how broad is the spectrum of clinical variability?

scientific article

Comparative analysis of short tandem repeat data obtained by automated and gel electrophoresis techniques

scientific article

Estudo de mutações causadoras de cardiomiopatia hipertrófica em um grupo de pacientes no Espírito Santo, Brasil

scientific article published on 01 January 2010

Genetic analysis of 15 autosomal and 12 Y-STR loci in the Espirito Santo State population, Brazil ⬇️

scientific article published on June 8, 2010

Molecular cytogenetic analysis of a ring-Y infertile male patient

article

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta

scientific article

Osteogenesis imperfecta in Brazilian patients

scientific article published on 01 April 2019

Polymorphism analysis of MTHFR, factor II, and factor V genes in the Pomeranian population of Espirito Santo, Brazil

scientific article

Positive association of a Sirt1 variant and parameters of oxidative stress on Alzheimer's disease

scientific article published on 14 September 2020

Prognostic significance of head and neck squamous cell carcinoma repair gene polymorphism

article

The 10 autosomal recessive limb-girdle muscular dystrophies

scientific article

The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer's disease

scientific article published on 16 March 2020

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

scientific article published in January 2005

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene

scientific article published on 13 September 2012

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