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Giulietta Scuvera

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Molecular Cytogenetics|November 9, 2016
<i>MIR137</i> is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletionsArianna Tucci, Claudia Ciaccio, Giulietta Scuvera, et al.
European Journal of Medical Genetics|December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineationClaudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A|December 27, 2016
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 casesArianna Tucci, Lidia Pezzani, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Perthes disease: A new finding in Floating-Harbor syndromeDonatella Milani, Giulietta Scuvera, Marta Gatti, et al.
Italian Journal of Pediatrics|October 1, 2022
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case reportElena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, et al.
Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
Human Genetics|August 5, 2017
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowthLuca Ferrari, Giulietta Scuvera, Arianna Tucci, et al.
Genes|January 25, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be RevealedElisabetta Prada, Giulia Bruna Marchetti, Denise Pires Marafon, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndromeBenedetta Masserini, Maria Francesca Bedeschi, Vera Bianchi, et al.
International Journal of Molecular Sciences|September 27, 2016
Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis BullosaSusanna Esposito, Sophie Guez, Annalisa Orenti, et al.
Pageof 4

Showing results (1-10 of 35) with videos related to

Sort By:
Pageof 4
Molecular Cytogenetics|November 9, 2016
<i>MIR137</i> is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletionsArianna Tucci, Claudia Ciaccio, Giulietta Scuvera, et al.
European Journal of Medical Genetics|December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineationClaudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A|December 27, 2016
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 casesArianna Tucci, Lidia Pezzani, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Perthes disease: A new finding in Floating-Harbor syndromeDonatella Milani, Giulietta Scuvera, Marta Gatti, et al.
Italian Journal of Pediatrics|October 1, 2022
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case reportElena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, et al.
Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
Human Genetics|August 5, 2017
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowthLuca Ferrari, Giulietta Scuvera, Arianna Tucci, et al.
Genes|January 25, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be RevealedElisabetta Prada, Giulia Bruna Marchetti, Denise Pires Marafon, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndromeBenedetta Masserini, Maria Francesca Bedeschi, Vera Bianchi, et al.
International Journal of Molecular Sciences|September 27, 2016
Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis BullosaSusanna Esposito, Sophie Guez, Annalisa Orenti, et al.
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