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Chiara Pescucci

Showing results (11-20 of 29) with videos related to

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Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Scientific Reports|March 31, 2023
Identification and characterization of novel ETV4 splice variants in prostate cancerIrene Cosi, Annalisa Moccia, Chiara Pescucci, et al.
Oncotarget|April 21, 2016
Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterationsValentina Montagnani, Matteo Benelli, Alessandro Apollo, et al.
European Journal of Medical Genetics|February 16, 2012
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairmentGiuseppina Marseglia, Maria Rosaria Scordo, Chiara Pescucci, et al.
Molecular and Cellular Probes|July 27, 2010
Easy genotyping of complement C3 'slow' and 'fast' allotypes by tetra-primer amplification refractory mutation system PCRBenedetta Peruzzi, Martina Serra, Chiara Pescucci, et al.
Kidney International|April 17, 2004
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 geneChiara Pescucci, Francesca Mari, Ilaria Longo, et al.
The British Journal of Ophthalmology|September 4, 2010
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAGPaolo Frezzotti, Chiara Pescucci, Filomena Tiziana Papa, et al.
European Journal of Human Genetics : EJHG|April 8, 2004
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangementsIlaria Longo, Luisa Russo, Ilaria Meloni, et al.
Human Mutation|January 5, 2026
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic YieldLia Bonamici, Lucia Artuso, Marco Marino, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 25, 2004
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology GroupGiovanni M Frascà, Andrea Onetti-Muda, Francesca Mari, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Scientific Reports|March 31, 2023
Identification and characterization of novel ETV4 splice variants in prostate cancerIrene Cosi, Annalisa Moccia, Chiara Pescucci, et al.
Oncotarget|April 21, 2016
Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterationsValentina Montagnani, Matteo Benelli, Alessandro Apollo, et al.
European Journal of Medical Genetics|February 16, 2012
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairmentGiuseppina Marseglia, Maria Rosaria Scordo, Chiara Pescucci, et al.
Molecular and Cellular Probes|July 27, 2010
Easy genotyping of complement C3 'slow' and 'fast' allotypes by tetra-primer amplification refractory mutation system PCRBenedetta Peruzzi, Martina Serra, Chiara Pescucci, et al.
Kidney International|April 17, 2004
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 geneChiara Pescucci, Francesca Mari, Ilaria Longo, et al.
The British Journal of Ophthalmology|September 4, 2010
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAGPaolo Frezzotti, Chiara Pescucci, Filomena Tiziana Papa, et al.
European Journal of Human Genetics : EJHG|April 8, 2004
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangementsIlaria Longo, Luisa Russo, Ilaria Meloni, et al.
Human Mutation|January 5, 2026
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic YieldLia Bonamici, Lucia Artuso, Marco Marino, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 25, 2004
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology GroupGiovanni M Frascà, Andrea Onetti-Muda, Francesca Mari, et al.
Pageof 3