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Lidia Pezzani

Showing results (11-20 of 38) with videos related to

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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.
European Journal of Medical Genetics|November 21, 2016
7p22.1 microduplication syndrome: Refinement of the critical regionLuisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, et al.
Italian Journal of Pediatrics|January 21, 2015
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementDonatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, et al.
American Journal of Medical Genetics. Part A|March 28, 2013
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility typeChiara Dordoni, Marco Ritelli, Marina Venturini, et al.
Glycobiology|October 5, 2019
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, 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.
Clinical Genetics|November 22, 2023
CATSHL syndrome, a new family and phenotypic expansionSilvia Cannova, Camilla Meossi, Federico Grilli, et al.
American Journal of Medical Genetics. Part A|March 9, 2026
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity EvidenceEmanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Double somatic mosaicism in Cornelia de Lange syndromeLidia Pezzani, Laura Pezzoli, Erica Rosina, et al.
Italian Journal of Pediatrics|September 28, 2024
A long way to syndromic short statureFederica Gaudioso, Camilla Meossi, Lidia Pezzani, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
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.
European Journal of Medical Genetics|November 21, 2016
7p22.1 microduplication syndrome: Refinement of the critical regionLuisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, et al.
Italian Journal of Pediatrics|January 21, 2015
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementDonatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, et al.
American Journal of Medical Genetics. Part A|March 28, 2013
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility typeChiara Dordoni, Marco Ritelli, Marina Venturini, et al.
Glycobiology|October 5, 2019
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, 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.
Clinical Genetics|November 22, 2023
CATSHL syndrome, a new family and phenotypic expansionSilvia Cannova, Camilla Meossi, Federico Grilli, et al.
American Journal of Medical Genetics. Part A|March 9, 2026
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity EvidenceEmanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Double somatic mosaicism in Cornelia de Lange syndromeLidia Pezzani, Laura Pezzoli, Erica Rosina, et al.
Italian Journal of Pediatrics|September 28, 2024
A long way to syndromic short statureFederica Gaudioso, Camilla Meossi, Lidia Pezzani, et al.
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