Elisa Bregant
Udine, Italy
Last Updated: 09/26/2026
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Found 11 publications
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant.
Journal: Clinical case reports
Published: May 09, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Journal: Human genetics
Published: October 23, 2024
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.
Journal: Clinical genetics
Published: March 20, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Journal: Journal of human genetics
Published: November 20, 2023
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.
Journal: European journal of human genetics : EJHG
Published: March 31, 2020
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.
Journal: European journal of medical genetics
Published: July 03, 2019
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
Journal: Clinical genetics
Published: August 20, 2018
Somatic amplifications and deletions in genome of papillary thyroid carcinomas.
Journal: Endocrine
Published: January 10, 2015
Cyclic AMP-response element modulator inhibits the promoter activity of the sodium iodide symporter gene in thyroid cancer cells.
Journal: Thyroid : official journal of the American Thyroid Association
Published: April 19, 2012
A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma.
Journal: Clinical endocrinology
Published: February 13, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026