Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project

Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subt...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Elisabetta Amadori (Author), Marcello Scala (Author), Giulia Sofia Cereda (Author), Maria Stella Vari (Author), Francesca Marchese (Author), Veronica Di Pisa (Author), Maria Margherita Mancardi (Author), Thea Giacomini (Author), Laura Siri (Author), Fabiana Vercellino (Author), Domenico Serino (Author), Alessandro Orsini (Author), Alice Bonuccelli (Author), Irene Bagnasco (Author), Amanda Papa (Author), Carlo Minetti (Author), Duccio Maria Cordelli (Author), Pasquale Striano (Author)
פורמט: ספר
יצא לאור: BMC, 2020-07-01T00:00:00Z.
נושאים:
גישה מקוונת:Connect to this object online.
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

אינטרנט

Connect to this object online.

3rd Floor Main Library

פרטי מלאי ספרים מ 3rd Floor Main Library
סימן המיקום: A1234.567
עותק 1 זמין