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Shira Rockowitz

Showing results (41-50 of 59) with videos related to

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Haematologica|October 16, 2025
Increased percentages of circulating T follicular helper cells associate with disease subtype and activity in pediatric immune cytopeniasEmily M Harris, Aleksandra Bourdine, Logan Magin, et al.
Blood|November 15, 2014
Selective inhibition of EZH2 and EZH1 enzymatic activity by a small molecule suppresses MLL-rearranged leukemiaBowen Xu, Doan M On, Anqi Ma, et al.
NPJ Genomic Medicine|July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiativeShira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Genes|June 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic DiseasesCatherine A Brownstein, Jill A Madden, Wanqing Shao, et al.
American Journal of Hematology|October 22, 2021
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6Raffaele Renella, Katelyn Gagne, Ellen Beauchamp, et al.
HGG Advances|September 13, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disordersJignesh R Parikh, Casie A Genetti, Asli Aykanat, et al.
Journal of Crohn'S & Colitis|April 2, 2022
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel DiseaseLauren V Collen, David Y Kim, Michael Field, et al.
The Journal of Allergy and Clinical Immunology. in Practice|August 6, 2023
Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital ImmunodeficienciesAlan A Nguyen, Saddiq B Habiballah, Brenna LaBere, et al.
Medrxiv : the Preprint Server for Health Sciences|June 19, 2023
Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficienciesAlan A Nguyen, Saddiq B Habiballah, Brenna LaBere, et al.
Therapeutic Advances in Rare Disease|July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutionsOlivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
Haematologica|October 16, 2025
Increased percentages of circulating T follicular helper cells associate with disease subtype and activity in pediatric immune cytopeniasEmily M Harris, Aleksandra Bourdine, Logan Magin, et al.
Blood|November 15, 2014
Selective inhibition of EZH2 and EZH1 enzymatic activity by a small molecule suppresses MLL-rearranged leukemiaBowen Xu, Doan M On, Anqi Ma, et al.
NPJ Genomic Medicine|July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiativeShira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Genes|June 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic DiseasesCatherine A Brownstein, Jill A Madden, Wanqing Shao, et al.
American Journal of Hematology|October 22, 2021
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6Raffaele Renella, Katelyn Gagne, Ellen Beauchamp, et al.
HGG Advances|September 13, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disordersJignesh R Parikh, Casie A Genetti, Asli Aykanat, et al.
Journal of Crohn'S & Colitis|April 2, 2022
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel DiseaseLauren V Collen, David Y Kim, Michael Field, et al.
The Journal of Allergy and Clinical Immunology. in Practice|August 6, 2023
Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital ImmunodeficienciesAlan A Nguyen, Saddiq B Habiballah, Brenna LaBere, et al.
Medrxiv : the Preprint Server for Health Sciences|June 19, 2023
Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficienciesAlan A Nguyen, Saddiq B Habiballah, Brenna LaBere, et al.
Therapeutic Advances in Rare Disease|July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutionsOlivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
Pageof 6