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

Giulia Severi

4PUBLICATIONS
30CO-AUTHORS
Gene mappingClinical psychologyGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

Sort by Publication Date:
|Apr 27, 2024
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in <i>KMT2E</i> Gene.

Mario Benvenuto, Sofia Cesarini, Giulia Severi

|Mar 01, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak

|Oct 21, 2022
New clinical features in an adult patient with Skraban-Deardorff syndrome.

Giovanni Innella, Emanuela Scarano, Pietro Palumbo

|Jan 21, 2022
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Anna Morgan, Flavio Faletra, Giulia Severi

Pageof 1

Frequent Collaborators

2 joint publications

Massimo Carella

1 joint publications

Anna Morgan

1 joint publications

Flavio Faletra

1 joint publications

Claudio Graziano

1 joint publications

Giorgia Girotto

1 joint publications

Giovanni Innella

1 joint publications

Jil D Stegmann

1 joint publications

Nina Ishorst

1 joint publications

Phillip Grote

1 joint publications

Eric W Klee

Frequent Collaborators

2 joint publications

Massimo Carella

1 joint publications

Anna Morgan

1 joint publications

Flavio Faletra

1 joint publications

Claudio Graziano

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

33.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

9.7K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on : Sep 20, 2018

16.0K
See more related videos

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

33.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

9.7K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on : Sep 20, 2018

16.0K
See more related videos