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Ammar Husami

Showing results (11-20 of 41) with videos related to

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The Journal of Physiology|March 31, 2026
Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humansPei Xin Boon, Amaia Jauregi-Miguel, S Suheda Yasarbas, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|March 26, 2013
Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing lossTheru A Sivakumaran, Ammar Husami, Diane Kissell, et al.
Neuromuscular Disorders : NMD|January 18, 2026
Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical managementElizabeth Ulm Seiwert, Xinrui Shi, Alyxis Coyan, et al.
HGG Advances|January 9, 2026
Recessive AARS1 variants perturb human and mouse developmentJennifer L Watts, Nicole Costantino, Ammar Husami, et al.
Frontiers in Immunology|November 13, 2025
Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunizationSamuel C C Chiang, Erika Owsley, Ammar Husami, et al.
Journal of the American Medical Informatics Association : JAMIA|September 18, 2025
Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementationRobert H Dolin, Nicolae-Mihai Todor, James Shalaby, et al.
Learning Health Systems|October 20, 2023
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variantsRobert Dolin, Bret S E Heale, Rohan Gupta, et al.
Pediatric Blood & Cancer|January 29, 2014
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3Yaping Qian, Judith A Johnson, Jessica A Connor, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|July 23, 2014
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosisKenneth M Kaufman, Bolan Linghu, Joseph D Szustakowski, et al.
Plos One|August 3, 2016
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismC Alexander Valencia, Xinjian Wang, Jin Wang, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
The Journal of Physiology|March 31, 2026
Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humansPei Xin Boon, Amaia Jauregi-Miguel, S Suheda Yasarbas, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|March 26, 2013
Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing lossTheru A Sivakumaran, Ammar Husami, Diane Kissell, et al.
Neuromuscular Disorders : NMD|January 18, 2026
Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical managementElizabeth Ulm Seiwert, Xinrui Shi, Alyxis Coyan, et al.
HGG Advances|January 9, 2026
Recessive AARS1 variants perturb human and mouse developmentJennifer L Watts, Nicole Costantino, Ammar Husami, et al.
Frontiers in Immunology|November 13, 2025
Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunizationSamuel C C Chiang, Erika Owsley, Ammar Husami, et al.
Journal of the American Medical Informatics Association : JAMIA|September 18, 2025
Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementationRobert H Dolin, Nicolae-Mihai Todor, James Shalaby, et al.
Learning Health Systems|October 20, 2023
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variantsRobert Dolin, Bret S E Heale, Rohan Gupta, et al.
Pediatric Blood & Cancer|January 29, 2014
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3Yaping Qian, Judith A Johnson, Jessica A Connor, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|July 23, 2014
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosisKenneth M Kaufman, Bolan Linghu, Joseph D Szustakowski, et al.
Plos One|August 3, 2016
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismC Alexander Valencia, Xinjian Wang, Jin Wang, et al.
Pageof 5