< Back to scientific publications

Magazine 14.03

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

Authors: Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Cantisani TA, Fanella M, Castellotti B, Gellera C, Bahlo M, Zara F, Courage C, Lehesjoki AE, Oliver KL, Berkovic SF

Date: 2021

Scope of interest: Epilepsy




You may also be interested in:

Report/Poster of Convention/Congress Act

Antigen D Variants: Carrier Pregnancy Management

Authors: Cristina D'Amico, Maria Chiara De Nicolò , Deborah Ilaria Gadaleta, Elena Gigliotti, Maria Di Carlo, Giorgia Guiducci, Francesca Docimo, Antonella Ricci,Loredana Paniccia, Roberta Colaceci, Rossana Mammone, Cristiana Colazingari, Anna Evangelista, Carla Gargiulo.

Date: 2020

Scope of interest: Clinical pathology


Read details
Magazine

Promoter Polymorphism of Vitamin D Receptor Gene Is Associated with Psoriasis Risk and Lower Allele-Specific Expression

Authors: Richetta AG et. al., D'Amico C, et al.

Date: 2014

Scope of interest: Molecular pathology


Read details
Magazine

Preliminary results of a counselling programme for fertility preservation in femalecancerpatients: The experience of the DORMANT GEMS NETWORK

Authors: Mariavita Ciccarone , Stefan Hohaus , Alessandro Pulsoni , Paola Cavaceppi , Simona Franzò , Raffaella Fabbri , Laura Cudillo , Roberta Battistini , Alice Di Rocco , Ombretta Annibali , Maria Christina Cox Ida Provenzano, Elisabetta Abruzzese, Daniela Renzi, Cristiano Tesei , Paola Anticoli Borza,

Date: 2019

Scope of interest: Haematology


Read details