Annabella Marozza
Florence, Italy
Last Updated: 09/26/2026
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Found 13 publications
Foetal cardiac rhabdomyoma due to paternal TSC1 Mutation: a case report and literature review.
Journal: Pathologica
Published: September 25, 2024
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2020
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.
Journal: Prenatal diagnosis
Published: January 09, 2020
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
Journal: Clinical genetics
Published: June 05, 2017
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Journal: Journal of medical genetics
Published: June 01, 2015
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
Journal: European journal of human genetics : EJHG
Published: March 26, 2014
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Journal: Human molecular genetics
Published: August 03, 2013
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Journal: American journal of medical genetics. Part A
Published: April 24, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
Journal: American journal of medical genetics. Part A
Published: March 04, 2013
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
Journal: Pathology oncology research : POR
Published: October 06, 2011
Last Updated: 09/26/2026