XP Peng, MS Al-Ddafari, A Caballero-Oteyza… - Clinical …, 2023 - Elsevier
The advent of next-generation sequencing (NGS) technologies has greatly expanded our understanding of both the clinical spectra and genetic landscape of inborn errors of …
D Firinu, M Pisanu, B Piras, R Meleddu… - Chinese Medical …, 2013 - journals.lww.com
The identification of the first molecular defect leading to Mendelian Susceptibility to Mycobacterial Disease (MSMD), 1 a rare syndrome conferring predisposition to disease …