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

Giulia Pascolini

Showing results (1-10 of 40) with videos related to

Pageof 4
Sort By:
Congenital Anomalies|May 31, 2021
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variantGiulia Pascolini
Italian Journal of Dermatology and Venereology|May 21, 2026
Peculiar association of congenital cutaneous features in a child with a novel complex chromosome rearrangementGiulia Pascolini
Medical Sciences (Basel, Switzerland)|January 21, 2026
Malformation Pattern and Molecular Findings in the <i>FGFR1</i>-Related Hartsfield Syndrome PhenotypeFederica Gaudioso, Giulia Pascolini
Italian Journal of Pediatrics|June 13, 2022
First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromesGiulia Pascolini, Mauro Calvani, Paola Grammatico
Diagnostics (Basel, Switzerland)|March 13, 2025
An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent PatientsGiulia Pascolini, Dario Didona, Luigi Tarani
American Journal of Medical Genetics. Part A|February 8, 2022
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearanceGiulia Pascolini, Maria Gnazzo, Antonio Novelli, et al.
Clinical Genetics|January 30, 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeGiulia Pascolini, Emanuele Agolini, Antonio Novelli, et al.
Journal of Human Genetics|May 16, 2019
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiersGiulia Pascolini, Nicole Fleischer, Alessandro Ferraris, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 31, 2015
Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeMarco Castori, Silvia Morlino, Giulia Pascolini, et al.
European Journal of Dermatology : EJD|February 1, 2024
Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1)Giulia Pascolini, Paola Fortugno, Balasubramanian Chandramouli, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
Congenital Anomalies|May 31, 2021
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variantGiulia Pascolini
Italian Journal of Dermatology and Venereology|May 21, 2026
Peculiar association of congenital cutaneous features in a child with a novel complex chromosome rearrangementGiulia Pascolini
Medical Sciences (Basel, Switzerland)|January 21, 2026
Malformation Pattern and Molecular Findings in the <i>FGFR1</i>-Related Hartsfield Syndrome PhenotypeFederica Gaudioso, Giulia Pascolini
Italian Journal of Pediatrics|June 13, 2022
First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromesGiulia Pascolini, Mauro Calvani, Paola Grammatico
Diagnostics (Basel, Switzerland)|March 13, 2025
An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent PatientsGiulia Pascolini, Dario Didona, Luigi Tarani
American Journal of Medical Genetics. Part A|February 8, 2022
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearanceGiulia Pascolini, Maria Gnazzo, Antonio Novelli, et al.
Clinical Genetics|January 30, 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeGiulia Pascolini, Emanuele Agolini, Antonio Novelli, et al.
Journal of Human Genetics|May 16, 2019
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiersGiulia Pascolini, Nicole Fleischer, Alessandro Ferraris, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 31, 2015
Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeMarco Castori, Silvia Morlino, Giulia Pascolini, et al.
European Journal of Dermatology : EJD|February 1, 2024
Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1)Giulia Pascolini, Paola Fortugno, Balasubramanian Chandramouli, et al.
Pageof 4