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Valentina Guida

Casa Sollievo della Sofferenza

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

2021 International Journal of Molecular Sciences
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Genotype-phenotype correlation in a group of patients with primary ciliary dyskinesia in Italy

2021 European Respiratory Journal
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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

2021 Clinical Genetics
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Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

2021 BMC Medical Genomics
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Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

2020 Human Mutation
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The Added Value of 3-Dimensional Echocardiography to Understand the Pathophysiology of Functional Tricuspid Regurgitation

2020 Jacc-cardiovascular Imaging
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Neonatal Marfan Syndrome by Inherited Mutation.

2020 Indian Journal of Pediatrics
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A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

2019 American Journal of Medical Genetics Part A
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Development and prognostic validation of partition values to grade right ventricular dysfunction severity using 3D echocardiography

2019 European Journal of Echocardiography
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Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

2019 The Journal of Pediatrics
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