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List of works by Anna Ruiz

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing

scientific article

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

scientific article published on 05 June 2021

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

scientific article published on 15 October 2021

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

scientific article published on 21 November 2017

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities

scientific article published on 11 December 2019

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