Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Roberta Onesimo

Showing results (81-90 of 111) with videos related to

Pageof 12
Sort By:
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Italian Journal of Pediatrics|February 13, 2021
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 eraEugenio Mercuri, Giuseppe Zampino, Alisha Morsella, et al.
Children (Basel, Switzerland)|June 26, 2026
Oral and Swallowing Abilities Tool (OrSAT) in Individuals with Type I SMA Older than 24 Months: A Pilot StudyGiulia Stanca, Maria Sframeli, Camilla Verdilio, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
American Journal of Medical Genetics. Part A|October 18, 2022
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patientsCecilia Ghisleni, Barbara Parma, Paola Cianci, et al.
Stem Cell Research|May 1, 2025
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutationAngela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, et al.
Parkinsonism & Related Disorders|July 27, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenologyGiacomo Garone, Alice Innocenti, Melissa Grasso, et al.
Orphanet Journal of Rare Diseases|July 23, 2024
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatmentValentina Trevisan, Eugenio De Corso, Germana Viscogliosi, et al.
Orphanet Journal of Rare Diseases|July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiencesAnna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Human Molecular Genetics|September 11, 2021
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing speciesGiovanna Carpentieri, Chiara Leoni, Donatella Pietraforte, et al.
Pageof 12

Showing results (81-90 of 111) with videos related to

Sort By:
Pageof 12
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Italian Journal of Pediatrics|February 13, 2021
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 eraEugenio Mercuri, Giuseppe Zampino, Alisha Morsella, et al.
Children (Basel, Switzerland)|June 26, 2026
Oral and Swallowing Abilities Tool (OrSAT) in Individuals with Type I SMA Older than 24 Months: A Pilot StudyGiulia Stanca, Maria Sframeli, Camilla Verdilio, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
American Journal of Medical Genetics. Part A|October 18, 2022
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patientsCecilia Ghisleni, Barbara Parma, Paola Cianci, et al.
Stem Cell Research|May 1, 2025
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutationAngela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, et al.
Parkinsonism & Related Disorders|July 27, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenologyGiacomo Garone, Alice Innocenti, Melissa Grasso, et al.
Orphanet Journal of Rare Diseases|July 23, 2024
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatmentValentina Trevisan, Eugenio De Corso, Germana Viscogliosi, et al.
Orphanet Journal of Rare Diseases|July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiencesAnna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Human Molecular Genetics|September 11, 2021
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing speciesGiovanna Carpentieri, Chiara Leoni, Donatella Pietraforte, et al.
Pageof 12