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

Angela Peron

Showing results (61-70 of 79) with videos related to

Pageof 8
Sort By:
Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
Human Mutation|May 14, 2020
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Neurology. Genetics|March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental DisorderJennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
American Journal of Medical Genetics. Part A|December 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative ReviewElizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Pageof 8

Showing results (61-70 of 79) with videos related to

Sort By:
Pageof 8
Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
Human Mutation|May 14, 2020
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Neurology. Genetics|March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental DisorderJennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
American Journal of Medical Genetics. Part A|December 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative ReviewElizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Pageof 8