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List of works by Grazia M S Mancini

Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound

scientific article published on 16 September 2017

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

scientific article published on 11 November 2019

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Human RAD50 deficiency: Confirmation of a distinctive phenotype

scientific article published on 25 March 2020

Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability

scientific article published on 11 December 2017

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

scientific article

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

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