Showing results (1-10 of 11) with videos related to
Sort By:
Pageof 2
Clinical Genetics|November 30, 2024
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and MacrocephalyLudovico Graziani, Miriam Lucia Carriero, Valentina Ferradini, et al.Genes|May 25, 2024
A Novel <i>COL4A5</i> Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney DiseaseLudovico Graziani, Chiara Minotti, Miriam Lucia Carriero, et al.Genes|August 26, 2023
Co-Inheritance of Pathogenic Variants in <i>PKD1</i> and <i>PKD2</i> Genes Determined by Parental Segregation and De Novo Origin: A Case ReportLudovico Graziani, Stefania Zampatti, Miriam Lucia Carriero, et al.Genes|November 27, 2025
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of <i>EYA1</i>-Related Disorders, Including a Novel Case with an 8q13.2q13.3 DeletionLudovico Graziani, Miriam Lucia Carriero, Salvatore Melchionda, et al.Molecular Syndromology|August 9, 2024
Genetic Variability of <i>SOX10</i>-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg SyndromeLudovico Graziani, Miriam Lucia Carriero, Flavio Pozzi, et al.The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|April 28, 2024
Prenatal identification of a pathogenic maternal <i>FGFR1</i> variant in two consecutive pregnancies with fetal forebrain malformationsLudovico Graziani, Sara Nuovo, Elisa Pisaneschi, et al.Journal of Personalized Medicine|October 25, 2024
Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score Evaluation: A Pilot StudyBarbara Rizzacasa, Vanessa Nicolì, Chantal Tancredi, et al.European Journal of Human Genetics : EJHG|April 26, 2020
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspotSusanna Croci, Miriam Lucia Carriero, Katia Capitani, et al.European Journal of Human Genetics : EJHG|June 17, 2020
AAV-mediated FOXG1 gene editing in human Rett primary cellsSusanna Croci, Miriam Lucia Carriero, Katia Capitani, et al.Journal of Personalized Medicine|July 2, 2021
Severe COVID-19 in Hospitalized Carriers of Single <i>CFTR</i> Pathogenic VariantsMargherita Baldassarri, Francesca Fava, Chiara Fallerini, et al.Pageof 2