Showing results (21-30 of 77) with videos related to
Sort By:
Pageof 8
Genes|July 2, 2021
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF PhenotypeManuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.International Journal of Molecular Sciences|April 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea, et al.British Journal of Haematology|January 15, 2016
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan AnaemiaPaola Quarello, Emanuela Garelli, Adriana Carando, et al.European Journal of Medical Genetics|February 5, 2017
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13qFabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, et al.International Journal of Molecular Sciences|August 10, 2024
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, et al.International Journal of Molecular Sciences|July 2, 2021
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel ActivityLisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, et al.Journal of Nephrology|March 7, 2016
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluriaAlessandra Pelle, Alessandra Cuccurullo, Cecilia Mancini, et al.International Journal of Molecular Sciences|December 11, 2022
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary CiliumLucia Ziccardi, Marcello Niceta, Emilia Stellacci, et al.Journal of the Neurological Sciences|April 16, 2015
Two families with novel missense mutations in COL4A1: When diagnosis can be missedElisa Giorgio, Giovanna Vaula, Giovanni Bosco, et al.Neurobiology of Aging|October 22, 2018
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementiaElisa Rubino, Cecilia Mancini, Silvia Boschi, et al.Pageof 8