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Ilaria Longo

Showing results (11-20 of 39) with videos related to

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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.
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.
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|September 8, 2011
Advances in Alport syndrome diagnosis using next-generation sequencingRosangela Artuso, Chiara Fallerini, Laura Dosa, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardationRossella Caselli, Maria Antonietta Mencarelli, Filomena Tiziana Papa, et al.
Acta Oncologica (Stockholm, Sweden)|September 12, 2008
Genomic differences between retinoma and retinoblastomaKatia Sampieri, Maria Antonietta Mencarelli, Maria Carmela Epistolato, et al.
Genes|September 28, 2021
13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor DelayFlavia Privitera, Arianna Calonaci, Gabriella Doddato, 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.
Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.
American Journal of Medical Genetics. Part A|October 31, 2007
MECP2 deletions and genotype-phenotype correlation in Rett syndromeElisa Scala, Ilaria Longo, Federica Ottimo, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
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.
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.
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|September 8, 2011
Advances in Alport syndrome diagnosis using next-generation sequencingRosangela Artuso, Chiara Fallerini, Laura Dosa, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardationRossella Caselli, Maria Antonietta Mencarelli, Filomena Tiziana Papa, et al.
Acta Oncologica (Stockholm, Sweden)|September 12, 2008
Genomic differences between retinoma and retinoblastomaKatia Sampieri, Maria Antonietta Mencarelli, Maria Carmela Epistolato, et al.
Genes|September 28, 2021
13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor DelayFlavia Privitera, Arianna Calonaci, Gabriella Doddato, 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.
Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.
American Journal of Medical Genetics. Part A|October 31, 2007
MECP2 deletions and genotype-phenotype correlation in Rett syndromeElisa Scala, Ilaria Longo, Federica Ottimo, et al.
Pageof 4