V. Ricci

Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 2003, American journal of medical genetics. Part A.

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

S. Regis, M. Filocamo, M. Duca, 2003, Human Genetics.

Screening of 25 Italian patients with Niemann‐Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

S. Regis, S. Grossi, F. Corsolini, 2004, Human mutation.

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in‐frame start codon

B. Bembi, M. Filocamo, M. G. Pittis, 2004, Human mutation.

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

S. Regis, F. Corsolini, M. Filocamo, 2004, European Journal of Human Genetics.