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F Benedicenti

Showing results (1-10 of 8) with videos related to

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Community Genetics|June 5, 2004
Down syndrome and parityM Clementi, S Bianca, F Benedicenti, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittentElena Di Pierro, V Brancaleoni, F Stanzial, et al.
Epilepsy & Behavior Reports|December 11, 2023
Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a <i>SMC1A</i> gene mutationL Parmeggiani, F Stanzial, E Menna, et al.
Clinical Genetics|April 11, 2012
An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the AlpsM Fanin, F Benedicenti, C Fritegotto, et al.
Gene Therapy|March 13, 2015
Shedding of clinical-grade lentiviral vectors is not detected in a gene therapy settingM Cesani, T Plati, L Lorioli, et al.
Teratology|December 18, 2001
Adverse effects of prenatal methimazole exposureE Di Gianantonio, C Schaefer, P P Mastroiacovo, et al.
Orphanet Journal of Rare Diseases|December 15, 2020
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensusM Grandis, L Obici, M Luigetti, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Community Genetics|June 5, 2004
Down syndrome and parityM Clementi, S Bianca, F Benedicenti, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittentElena Di Pierro, V Brancaleoni, F Stanzial, et al.
Epilepsy & Behavior Reports|December 11, 2023
Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a <i>SMC1A</i> gene mutationL Parmeggiani, F Stanzial, E Menna, et al.
Clinical Genetics|April 11, 2012
An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the AlpsM Fanin, F Benedicenti, C Fritegotto, et al.
Gene Therapy|March 13, 2015
Shedding of clinical-grade lentiviral vectors is not detected in a gene therapy settingM Cesani, T Plati, L Lorioli, et al.
Teratology|December 18, 2001
Adverse effects of prenatal methimazole exposureE Di Gianantonio, C Schaefer, P P Mastroiacovo, et al.
Orphanet Journal of Rare Diseases|December 15, 2020
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensusM Grandis, L Obici, M Luigetti, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
Pageof 1