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List of works by Susana Isabel Ferreira

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

scientific article

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region ⬇️

scientific article published on May 2, 2012

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

scientific article

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

scientific article published on 20 June 2013

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

scientific article published on 25 July 2014

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