Prof. Giacomo P. Comi Centro Dino Ferrari, Dipartimento di Scienze Neurologiche Università degli Studi di Milano, Fondazione Ospedale Maggiore Policlinico,
Neurofibromatosis type I
Fabry disease
"The role of the nuclear factor TDP 43 in neurodegeneration" by Francisco E. Baralle
RNA splicing mutations and human disease: Pompe disease.
1 A multi-species comparative structural bioinformatics analysis of inherited mutations in -D-Mannosidase reveals strong genotype-phenotype correlation.
Chapter 11 Newborn Screening. Introduction Newborns can be screened for an increasing variety of conditions on the principle that early detection can.
Javed Mohammed Khan and Shoba Ranganathan
