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Neurogenetics|April 20, 2020
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorderPınar Gelener, Mariasavina Severino, Sevda Diker, et al.Molecular Genetics & Genomic Medicine|May 6, 2020
Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatmentStefano Paolacci, Aysha Karim Kiani, Elena Manara, et al.Global Medical Genetics|August 25, 2021
Psychomotor Delay in a Child with <i>FGFR3</i> G380R Pathogenic Mutation Causing AchondroplasiaMahmut C Ergoren, Erdal Eren, Elena Manara, et al.Applied Immunohistochemistry & Molecular Morphology : AIMM|September 12, 2022
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot FamilyMahmut Cerkez Ergoren, Nese Akcan, Elena Manara, et al.Advances in Medical Sciences|September 29, 2017
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencingAlireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, et al.Journal of Clinical Medicine|October 27, 2020
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular MalformationsStefano Paolacci, Raul Ettore Mattassi, Giuseppe Marceddu, et al.Minerva Endocrinology|May 14, 2021
A simultaneous next-generation sequencing approach to the diagnosis of couple infertilityVincenza Precone, Angelantonio Notarangelo, Giuseppe Marceddu, et al.American Journal of Medical Genetics. Part A|June 20, 2019
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variantsPaolo E Maltese, Sandro Michelini, Maurizio Ricci, et al.Journal of Pediatric Ophthalmology and Strabismus|March 17, 2020
CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying OocytesStefano Paolacci, Giancarlo Iarossi, Elena Gusson, et al.Frontiers in Endocrinology|February 12, 2021
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made PanelVincenza Precone, Rossella Cannarella, Stefano Paolacci, et al.Pageof 6