Showing results (41-50 of 82) with videos related to
Sort By:
Pageof 9
Genes|March 29, 2023
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.Orphanet Journal of Rare Diseases|April 27, 2020
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disordersMichael Smith, Elizabeth Alexander, Ruta Marcinkute, et al.European Journal of Human Genetics : EJHG|January 8, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformationsValentina Muto, Giulia Fasano, Francesca Clementina Radio, et al.Human Molecular Genetics|July 15, 2026
SPEN deficiency contributes to the development of orofacial clefts in humans and miceBum Jun Kim, Andrés Hernández-García, David L Curtis, et al.Journal of Medical Genetics|December 16, 2020
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesisLisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.Pageof 9