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Emanuela Ponzi

Showing results (1-10 of 21) with videos related to

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European Journal of Medical Genetics|May 9, 2012
The ring 14 syndromeMarcella Zollino, Emanuela Ponzi, Giuseppe Gobbi, et al.
Pediatric Reports|February 20, 2026
Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future PerspectivesAlbina Tummolo, Emanuela Ponzi, Simonetta Simonetti, et al.
Pediatric Reports|March 24, 2026
Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. <i>Pediatr. Rep.</i> 2026, <i>18</i>, 14Albina Tummolo, Emanuela Ponzi, Simonetta Simonetti, et al.
European Journal of Medical Genetics|June 29, 2015
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotypeEmanuela Ponzi, Alessia Asaro, Daniela Orteschi, et al.
Frontiers in Genetics|September 2, 2024
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literatureRoberto Palumbi, Emanuela Ponzi, Stefania Micella, et al.
Orphanet Journal of Rare Diseases|April 16, 2015
The hyperornithinemia-hyperammonemia-homocitrullinuria syndromeDiego Martinelli, Daria Diodato, Emanuela Ponzi, et al.
Clinical Genetics|October 6, 2018
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotypeMattia Gentile, Emanuele Agolini, Dario Cocciadiferro, et al.
The Journal of Pediatrics|September 9, 2018
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of MetabolismEmanuela Ponzi, Arianna Maiorana, Francesca Romana Lepri, et al.
Molecular Genetics & Genomic Medicine|March 28, 2019
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardationEmanuela Ponzi, Viola Alesi, Francesca R Lepri, et al.
Molecular Genetics & Genomic Medicine|May 17, 2020
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomaliesEmanuela Ponzi, Mattia Gentile, Emanuele Agolini, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|May 9, 2012
The ring 14 syndromeMarcella Zollino, Emanuela Ponzi, Giuseppe Gobbi, et al.
Pediatric Reports|February 20, 2026
Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future PerspectivesAlbina Tummolo, Emanuela Ponzi, Simonetta Simonetti, et al.
Pediatric Reports|March 24, 2026
Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. <i>Pediatr. Rep.</i> 2026, <i>18</i>, 14Albina Tummolo, Emanuela Ponzi, Simonetta Simonetti, et al.
European Journal of Medical Genetics|June 29, 2015
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotypeEmanuela Ponzi, Alessia Asaro, Daniela Orteschi, et al.
Frontiers in Genetics|September 2, 2024
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literatureRoberto Palumbi, Emanuela Ponzi, Stefania Micella, et al.
Orphanet Journal of Rare Diseases|April 16, 2015
The hyperornithinemia-hyperammonemia-homocitrullinuria syndromeDiego Martinelli, Daria Diodato, Emanuela Ponzi, et al.
Clinical Genetics|October 6, 2018
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotypeMattia Gentile, Emanuele Agolini, Dario Cocciadiferro, et al.
The Journal of Pediatrics|September 9, 2018
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of MetabolismEmanuela Ponzi, Arianna Maiorana, Francesca Romana Lepri, et al.
Molecular Genetics & Genomic Medicine|March 28, 2019
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardationEmanuela Ponzi, Viola Alesi, Francesca R Lepri, et al.
Molecular Genetics & Genomic Medicine|May 17, 2020
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomaliesEmanuela Ponzi, Mattia Gentile, Emanuele Agolini, et al.
Pageof 3