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Mirella Filocamo

Showing results (41-50 of 103) with videos related to

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Neurogenetics|January 31, 2014
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothersLaura Siri, Andrea Rossi, Federica Lanza, et al.
Clinical Biochemistry|June 20, 2014
Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patientsMarina Stroppiano, Maria Grazia Calevo, Fabio Corsolini, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
Nature Communications|October 27, 2010
Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetesEusebio Chiefari, Stefania Iiritano, Francesco Paonessa, et al.
Human Mutation|August 31, 2002
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patientsMirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Journal of Human Genetics|December 23, 2016
Norrbottnian clinical variant of Gaucher disease in Southern ItalySimona Sestito, Mirella Filocamo, Ferdinando Ceravolo, et al.
Journal of Inherited Metabolic Disease|April 25, 2012
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblastsMassimo Aureli, Rosaria Bassi, Nicoletta Loberto, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Functional analysis of 11 novel GBA allelesErika Malini, Serena Grossi, Marta Deganuto, et al.
Biochimica Et Biophysica Acta|February 24, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanismsSusanna Lualdi, Maja Di Rocco, Fabio Corsolini, et al.
Pageof 11

Showing results (41-50 of 103) with videos related to

Sort By:
Pageof 11
Neurogenetics|January 31, 2014
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothersLaura Siri, Andrea Rossi, Federica Lanza, et al.
Clinical Biochemistry|June 20, 2014
Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patientsMarina Stroppiano, Maria Grazia Calevo, Fabio Corsolini, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
Nature Communications|October 27, 2010
Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetesEusebio Chiefari, Stefania Iiritano, Francesco Paonessa, et al.
Human Mutation|August 31, 2002
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patientsMirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Journal of Human Genetics|December 23, 2016
Norrbottnian clinical variant of Gaucher disease in Southern ItalySimona Sestito, Mirella Filocamo, Ferdinando Ceravolo, et al.
Journal of Inherited Metabolic Disease|April 25, 2012
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblastsMassimo Aureli, Rosaria Bassi, Nicoletta Loberto, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Functional analysis of 11 novel GBA allelesErika Malini, Serena Grossi, Marta Deganuto, et al.
Biochimica Et Biophysica Acta|February 24, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanismsSusanna Lualdi, Maja Di Rocco, Fabio Corsolini, et al.
Pageof 11