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List of works by Rita Mingarelli

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

scientific article published in December 2004

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

scientific article

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

scientific article published on 01 July 2006

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

article

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

article

Reticulate vascular lesions and a large head

scientific article published in September 2007

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

scientific article published in December 2007

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