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P F Pignatti

Showing results (51-60 of 117) with videos related to

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Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Human Genetics|January 28, 1999
Complete mutational screening of the CFTR gene in 120 patients with pulmonary diseaseC Bombieri, M Benetazzo, A Saccomani, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
Journal of the Neurological Sciences|July 30, 1999
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patientsM Gomez-Lira, C Perusi, M Mottes, et al.
Human Genetics|October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patientsM Gomez-Lira, A Sangalli, M Mottes, et al.
Human Molecular Genetics|December 1, 1994
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helixA Forlino, F Zolezzi, M Valli, et al.
Bone Marrow Transplantation|January 1, 1991
An assessment of chimeric transcript detection in CML patients after bone marrow transplantationG Martinelli, M Sessarego, P Gasparini, et al.
Journal of Hypertension|June 8, 2001
Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery diseaseO Olivieri, C Stranieri, D Girelli, et al.
Journal of Medical Genetics|August 27, 1998
Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian populationE Trabetti, V Cusin, G Malerba, et al.
Journal of Neuroimmunology|November 26, 2002
Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosisM Gomez-Lira, G Moretto, D Bonamini, et al.
Pageof 12

Showing results (51-60 of 117) with videos related to

Sort By:
Pageof 12
Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Human Genetics|January 28, 1999
Complete mutational screening of the CFTR gene in 120 patients with pulmonary diseaseC Bombieri, M Benetazzo, A Saccomani, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
Journal of the Neurological Sciences|July 30, 1999
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patientsM Gomez-Lira, C Perusi, M Mottes, et al.
Human Genetics|October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patientsM Gomez-Lira, A Sangalli, M Mottes, et al.
Human Molecular Genetics|December 1, 1994
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helixA Forlino, F Zolezzi, M Valli, et al.
Bone Marrow Transplantation|January 1, 1991
An assessment of chimeric transcript detection in CML patients after bone marrow transplantationG Martinelli, M Sessarego, P Gasparini, et al.
Journal of Hypertension|June 8, 2001
Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery diseaseO Olivieri, C Stranieri, D Girelli, et al.
Journal of Medical Genetics|August 27, 1998
Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian populationE Trabetti, V Cusin, G Malerba, et al.
Journal of Neuroimmunology|November 26, 2002
Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosisM Gomez-Lira, G Moretto, D Bonamini, et al.
Pageof 12