Showing results (1-10 of 11) with videos related to
Sort By:
Pageof 2
Diabetes Research and Clinical Practice|September 23, 2016
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndromeGiulio Maltoni, Raffaella Minardi, Carlotta Pia Cristalli, et al.Genes|June 28, 2023
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic AllelesEnrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 8, 2022
Identification of a serum and urine extracellular vesicle signature predicting renal outcome after kidney transplantJacopo Burrello, Silvia Monticone, Alessio Burrello, et al.American Journal of Medical Genetics. Part A|January 4, 2026
Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature ReviewIrene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, et al.Progress in Neuro-Psychopharmacology & Biological Psychiatry|October 10, 2017
Pleiotropic genes in psychiatry: Calcium channels and the stress-related FKBP5 gene in antidepressant resistanceChiara Fabbri, Filippo Corponi, Diego Albani, et al.Journal of Nephrology|February 10, 2025
The need for clinical, genetic and radiological characterization of atypical polycystic kidney diseaseMatteo Righini, Cristiana Corsi, Nicola Sciascia, et al.Genes|January 26, 2024
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric CohortValeria Aiello, Francesca Ciurli, Amalia Conti, et al.Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.Frontiers in Genetics|May 28, 2020
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of FamiliesVilma Mantovani, Sofia Bin, Claudio Graziano, et al.International Journal of Cardiology|January 24, 2025
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of ItalySamuela Carigi, Giulia Olivucci, Carlotta Pia Cristalli, et al.Pageof 2