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Publications by Débora R Bertola

Large Deletion in PIGL: A Common Mutational Mechanism in CHIME Syndrome?

Genetics and Molecular Biology
GeneticsMolecular Biology
2018English

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A Large Deletion in the CFTR Gene in CBAVD

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Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism

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Complement Activation in 22q11.2 Deletion Syndrome

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The Mutational Spectrum of Lynch Syndrome in Cyprus

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Cryptic 5q Deletion in a Patient With Myelodysplastic Syndrome

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Acute Dystonia in a Patient With 22q11.2 Deletion Syndrome

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A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient With X-Linked Ichthyosis

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Obesity in Adults With 22q11.2 Deletion Syndrome

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