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Marco Castori

Showing results (51-60 of 239) with videos related to

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Acta Bio-Medica : Atenei Parmensis|November 10, 2020
Genetic analysis of genes associated with epilepsyGiulia Guerri, Marco Castori, Leonardo D'Agruma, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 7, 2007
Pai syndrome: first patient with agenesis of the corpus callosum and literature reviewMarco Castori, Rosanna Rinaldi, Aurelia Bianchi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 29, 2026
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte DravetGiuseppe d'Orsi, Leonardo D'Agruma, Pietro Palumbo, et al.
Genes|June 13, 2019
Characterization of Two Novel Intronic Variants Affecting <i>Splicing</i> in <i>FBN1</i>-Related DisordersCarmela Fusco, Silvia Morlino, Lucia Micale, et al.
American Journal of Medical Genetics. Part A|November 10, 2011
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromesValeria Serra, Marco Castori, Mauro Paradisi, et al.
European Journal of Dermatology : EJD|December 19, 2007
Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old femaleMarco Castori, Silvia Majore, Francesco Romanelli, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Phacomatosis cesioflammea with unilateral lipohypoplasiaMarco Castori, Rosanna Rinaldi, Corrado Angelo, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutationMarco Castori, Silvia Morlino, Francesca Clementina Radio, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|November 1, 2014
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndromeSilvia Morlino, Marco Castori, Francesca Servadei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 31, 2015
Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficultiesClaudia Celletti, Giorgia Mari, Giulia Ghibellini, et al.
Pageof 24

Showing results (51-60 of 239) with videos related to

Sort By:
Pageof 24
Acta Bio-Medica : Atenei Parmensis|November 10, 2020
Genetic analysis of genes associated with epilepsyGiulia Guerri, Marco Castori, Leonardo D'Agruma, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 7, 2007
Pai syndrome: first patient with agenesis of the corpus callosum and literature reviewMarco Castori, Rosanna Rinaldi, Aurelia Bianchi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 29, 2026
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte DravetGiuseppe d'Orsi, Leonardo D'Agruma, Pietro Palumbo, et al.
Genes|June 13, 2019
Characterization of Two Novel Intronic Variants Affecting <i>Splicing</i> in <i>FBN1</i>-Related DisordersCarmela Fusco, Silvia Morlino, Lucia Micale, et al.
American Journal of Medical Genetics. Part A|November 10, 2011
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromesValeria Serra, Marco Castori, Mauro Paradisi, et al.
European Journal of Dermatology : EJD|December 19, 2007
Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old femaleMarco Castori, Silvia Majore, Francesco Romanelli, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Phacomatosis cesioflammea with unilateral lipohypoplasiaMarco Castori, Rosanna Rinaldi, Corrado Angelo, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutationMarco Castori, Silvia Morlino, Francesca Clementina Radio, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|November 1, 2014
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndromeSilvia Morlino, Marco Castori, Francesca Servadei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 31, 2015
Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficultiesClaudia Celletti, Giorgia Mari, Giulia Ghibellini, et al.
Pageof 24