Elisa Tassano
Genoa, Italy
Last Updated: 09/26/2026
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Found 48 publications
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Journal: Cytogenetic and genome research
Published: September 07, 2021
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Journal: Frontiers in genetics
Published: June 28, 2021
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.
Journal: Journal of nephrology
Published: August 22, 2020
17q23.3 de novo microdeletion involving only TANC2 gene: A new case.
Journal: European journal of medical genetics
Published: May 27, 2020
Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies.
Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
Published: February 10, 2020
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 05, 2019
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.
Journal: Journal of genetics
Published: June 18, 2019
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Journal: The EMBO journal
Published: August 22, 2018
1p31.1 microdeletion including only NEGR1 gene in two patients.
Journal: European journal of medical genetics
Published: August 06, 2018
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
Journal: European journal of medical genetics
Published: July 16, 2018
Last Updated: 09/26/2026