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Stefano Regis

Showing results (1-10 of 42) with videos related to

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Pediatric Neurology|May 7, 2002
Long-term follow-up of children with chronic relapsing polyneuropathyNina Barisić, Stefano Regis, Leo Pazanin
DNA Sequence : the Journal of DNA Sequencing and Mapping|February 21, 2003
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase geneStefano Regis, Fabio Dagnino, Francesco Caroli, et al.
Human Genetics|February 13, 2003
An Alu-mediated rearrangement as cause of exon skipping in Hunter diseaseVerena Ricci, Stefano Regis, Marco Di Duca, et al.
Neurogenetics|April 14, 2005
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano Regis, Serena Grossi, Susanna Lualdi, et al.
Human Genetics|April 10, 2002
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severityStefano Regis, Fabio Corsolini, Marina Stroppiano, et al.
Biochimica Et Biophysica Acta|April 21, 2009
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patientsStefano Regis, Serena Grossi, Fabio Corsolini, et al.
Frontiers in Immunology|March 13, 2020
NK Cell Function Regulation by TGF-β-Induced Epigenetic MechanismsStefano Regis, Alessandra Dondero, Fabio Caliendo, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patientStefano Regis, Fabio Corsolini, Verena Ricci, et al.
Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Molecular Genetics and Metabolism|June 20, 2006
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patientStefano Regis, Susanna Lualdi, Alessandra Biffi, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Pediatric Neurology|May 7, 2002
Long-term follow-up of children with chronic relapsing polyneuropathyNina Barisić, Stefano Regis, Leo Pazanin
DNA Sequence : the Journal of DNA Sequencing and Mapping|February 21, 2003
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase geneStefano Regis, Fabio Dagnino, Francesco Caroli, et al.
Human Genetics|February 13, 2003
An Alu-mediated rearrangement as cause of exon skipping in Hunter diseaseVerena Ricci, Stefano Regis, Marco Di Duca, et al.
Neurogenetics|April 14, 2005
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano Regis, Serena Grossi, Susanna Lualdi, et al.
Human Genetics|April 10, 2002
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severityStefano Regis, Fabio Corsolini, Marina Stroppiano, et al.
Biochimica Et Biophysica Acta|April 21, 2009
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patientsStefano Regis, Serena Grossi, Fabio Corsolini, et al.
Frontiers in Immunology|March 13, 2020
NK Cell Function Regulation by TGF-β-Induced Epigenetic MechanismsStefano Regis, Alessandra Dondero, Fabio Caliendo, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patientStefano Regis, Fabio Corsolini, Verena Ricci, et al.
Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Molecular Genetics and Metabolism|June 20, 2006
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patientStefano Regis, Susanna Lualdi, Alessandra Biffi, et al.
Pageof 5