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

Donatella Greco

Showing results (31-40 of 41) with videos related to

Pageof 5
Sort By:
Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Orphanet Journal of Rare Diseases|February 16, 2023
The Italian registry for patients with Prader-Willi syndromeMarco Salvatore, Paola Torreri, Graziano Grugni, et al.
Journal of Medical Genetics|October 15, 2013
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencingJanneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Reviews on Recent Clinical Trials|June 15, 2021
Effectiveness and Safety of A Nutraceutical Formulation for the Treatment of Functional Dyspepsia in Primary CareAntonio Tursi, Marcello Picchio, Walter Elisei, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Brain : a Journal of Neurology|June 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorderPinella Failla, Valentina Muto, Antonella Lauri, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Orphanet Journal of Rare Diseases|February 16, 2023
The Italian registry for patients with Prader-Willi syndromeMarco Salvatore, Paola Torreri, Graziano Grugni, et al.
Journal of Medical Genetics|October 15, 2013
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencingJanneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Reviews on Recent Clinical Trials|June 15, 2021
Effectiveness and Safety of A Nutraceutical Formulation for the Treatment of Functional Dyspepsia in Primary CareAntonio Tursi, Marcello Picchio, Walter Elisei, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Pageof 5