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List of works by Maria Cristina Digilio

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

scientific article published on 23 May 2018

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

scientific article

Congenital heart defects in molecularly proven Kabuki syndrome patients.

scientific article published on 8 September 2017

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

scientific article published on 16 April 2018

Expanding the clinical spectrum associated with PACS2 mutations

scientific article published on 28 February 2019

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

scientific article published on 20 May 2019

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.

scientific article published on 10 February 2018

KBG syndrome: Common and uncommon clinical features based on 31 new patients

scientific article published on 03 March 2020

Small 4p16.3 deletions: Three additional patients and review of the literature

article

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