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

Anna Cereda

Showing results (41-50 of 55) with videos related to

Pageof 6
Sort By:
European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
Frontiers in Immunology|July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohortBenedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
Frontiers in Immunology|July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohortBenedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Pageof 6