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Christina Canavati

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

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International Journal of Molecular Sciences|February 13, 2026
CladeOScope-GSA: Revealing Evolutionary Associations Across Gene SetsMaya Braun, Idit Bloch, Dana Sherill-Rofe, et al.
Epilepsia|May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable fociChristina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Circulation|January 16, 2024
Pathogenic Variants of Scavenger Receptor <i>CD36</i> Lead to Decreased Efferocytosis and Predispose to Myocarditis Following Vaccination With Pfizer-BioNTech BNT162b2 Against Coronavirus Infection (COVID-19)Christina Canavati, Ahmad Siam, Sapir Labes, et al.
BMC Medical Genomics|June 9, 2026
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorderChristina Canavati, Motee Ashhab, Grace Rabie, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalitiesLara Kamal, Sarah B Pierce, Christina Canavati, et al.
Genome Medicine|January 4, 2024
Using multi-scale genomics to associate poorly annotated genes with rare diseasesChristina Canavati, Dana Sherill-Rofe, Lara Kamal, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 5, 2020
Genomic analysis of inherited hearing loss in the Palestinian populationAmal Abu Rayyan, Lara Kamal, Silvia Casadei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2026
Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted TranscriptionChristina Canavati, Mari Oppebøen, Radha Verma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 1

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

Sort By:
Pageof 1
International Journal of Molecular Sciences|February 13, 2026
CladeOScope-GSA: Revealing Evolutionary Associations Across Gene SetsMaya Braun, Idit Bloch, Dana Sherill-Rofe, et al.
Epilepsia|May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable fociChristina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Circulation|January 16, 2024
Pathogenic Variants of Scavenger Receptor <i>CD36</i> Lead to Decreased Efferocytosis and Predispose to Myocarditis Following Vaccination With Pfizer-BioNTech BNT162b2 Against Coronavirus Infection (COVID-19)Christina Canavati, Ahmad Siam, Sapir Labes, et al.
BMC Medical Genomics|June 9, 2026
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorderChristina Canavati, Motee Ashhab, Grace Rabie, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalitiesLara Kamal, Sarah B Pierce, Christina Canavati, et al.
Genome Medicine|January 4, 2024
Using multi-scale genomics to associate poorly annotated genes with rare diseasesChristina Canavati, Dana Sherill-Rofe, Lara Kamal, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 5, 2020
Genomic analysis of inherited hearing loss in the Palestinian populationAmal Abu Rayyan, Lara Kamal, Silvia Casadei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2026
Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted TranscriptionChristina Canavati, Mari Oppebøen, Radha Verma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 1