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P F Pignatti

Showing results (91-100 of 117) with videos related to

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Human Genetics|June 1, 1994
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfectaM Mottes, A Sangalli, M Valli, et al.
Journal of Medical Genetics|May 1, 1993
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformationsA E Turco, E M Padovani, G P Chiaffoni, et al.
The European Respiratory Journal|March 29, 2003
Tumour necrosis factor family genes in a phenotype of COPD associated with emphysemaI Ferrarotti, M Zorzetto, M Beccaria, et al.
Haematologica|March 1, 1991
Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CMLA Guerrasio, G Martinelli, A Ambrosetti, et al.
Journal of Molecular Evolution|December 1, 1995
Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulationsB M Ciminelli, F Pompei, P Malaspina, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 1, 1996
Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney diseaseA E Turco, S Rossetti, E Bresin, et al.
Clinical Genetics|November 1, 1995
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndromeA E Turco, S Rossetti, M O Biasi, et al.
Human Genetics|December 1, 1994
Complete detection of mutations in cystic fibrosis patients of Native American originB Mercier, O Raguénès, X Estivill, et al.
The Journal of Clinical Endocrinology and Metabolism|December 17, 2010
Variants and haplotypes of TCF7L2 are associated with β-cell function in patients with newly diagnosed type 2 diabetes: the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 1S Bonetti, M Trombetta, G Malerba, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
Human Genetics|June 1, 1994
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfectaM Mottes, A Sangalli, M Valli, et al.
Journal of Medical Genetics|May 1, 1993
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformationsA E Turco, E M Padovani, G P Chiaffoni, et al.
The European Respiratory Journal|March 29, 2003
Tumour necrosis factor family genes in a phenotype of COPD associated with emphysemaI Ferrarotti, M Zorzetto, M Beccaria, et al.
Haematologica|March 1, 1991
Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CMLA Guerrasio, G Martinelli, A Ambrosetti, et al.
Journal of Molecular Evolution|December 1, 1995
Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulationsB M Ciminelli, F Pompei, P Malaspina, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 1, 1996
Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney diseaseA E Turco, S Rossetti, E Bresin, et al.
Clinical Genetics|November 1, 1995
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndromeA E Turco, S Rossetti, M O Biasi, et al.
Human Genetics|December 1, 1994
Complete detection of mutations in cystic fibrosis patients of Native American originB Mercier, O Raguénès, X Estivill, et al.
The Journal of Clinical Endocrinology and Metabolism|December 17, 2010
Variants and haplotypes of TCF7L2 are associated with β-cell function in patients with newly diagnosed type 2 diabetes: the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 1S Bonetti, M Trombetta, G Malerba, et al.
Pageof 12