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List of works by Edoardo Errichiello

An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

scientific article published on 14 October 2020

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

scientific article published in 2024

Myogenic Potential of Whole Bone Marrow Mesenchymal Stem Cells In Vitro and In Vivo for Usage in Urinary Incontinence ⬇️

scientific article published on September 21, 2012

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

scientific article published on 19 December 2020

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

scientific article

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

scientific article published on 22 January 2018

Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes ⬇️

scientific article published on March 6, 2013

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

scientific article published on 6 March 2017

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