Showing results (51-60 of 93) with videos related to

Sort By:
Pageof 10
Gene|December 26, 2012
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutationsFlavio Faletra, Kara Snider, Show-Ling Shyng, et al.
Radiology|February 5, 2009
Detection of epidermal thickening in GJB2 carriers with epidermal USPierpaolo Guastalla, Veronica Ileana Guerci, Antonella Fabretto, et al.
Hearing Research|August 7, 2019
Next generation sequencing study in a cohort of Italian patients with syndromic hearing lossStefania Lenarduzzi, Anna Morgan, Flavio Faletra, et al.
Gene|September 23, 2024
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performanceFederica Baldan, Eliana Demori, Chiara Gnan, et al.
Prenatal Diagnosis|June 2, 2023
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentilesIlaria Fantasia, Silvia Catagini, Giulia Zamagni, et al.
Genes|October 27, 2020
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian PopulationAnna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, et al.
Molecular Genetics & Genomic Medicine|December 28, 2020
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype studyVera Uliana, Paola Sebastio, Matteo Riva, et al.
Genes|March 25, 2022
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing ChallengeLuciana Musante, Paola Costa, Caterina Zanus, et al.
Gene|March 20, 2013
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohortFlavio Faletra, Emmanouil Athanasakis, Anna Morgan, et al.
Frontiers in Genetics|November 17, 2022
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counsellingAgnese Feresin, Tamara Stampalija, Stefania Cappellani, et al.
Pageof 10