Maria C. Roberti
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 9 publications
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Journal: International journal of molecular sciences
Published: May 07, 2024
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Journal: Human genomics
Published: August 26, 2023
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Journal: International journal of molecular sciences
Published: September 01, 2022
Hypoplastic left heart syndrome and 21q22.3 deletion.
Journal: American journal of medical genetics. Part A
Published: December 30, 2013
Telomere shortening and telomere position effect in mild ring 17 syndrome.
Journal: Epigenetics & chromatin
Published: September 23, 2013
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.
Journal: BMC medical genomics
Published: September 24, 2012
Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.
Journal: Clinical genetics
Published: September 18, 2012
Atrioventricular canal defect in patients with RASopathies.
Journal: European journal of human genetics : EJHG
Published: July 12, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026