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Ammar Husami

Showing results (1-10 of 41) with videos related to

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American Journal of Hematology|December 5, 2025
When a Trait Becomes a Disease: A Rare Hematologic Overlap of Sickle Cell Trait and Hereditary SpherocytosisOmar Ammari, Mina Shah, Yasmin Elgammal, et al.
Pediatric Dermatology|January 16, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosaAnne W Lucky, Neha Dagaonkar, Karen Lammers, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|April 23, 2020
Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutationsAmmar Husami, Jesse Slone, Jenice Brown, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
Genetic Analysis and Functional Assessment of a <i>TGFBR2</i> Variant in Micrognathia and Cleft PalateJes-Rite Michaels, Ammar Husami, Andrew M Vontell, et al.
NPJ Genomic Medicine|July 21, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patientsZeyu Yang, Amy Shikany, Ammar Husami, et al.
Plos One|June 9, 2025
Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palateJes-Rite Michaels, Paul P R Iyyanar, Ammar Husami, et al.
Pediatric Blood & Cancer|October 3, 2022
Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestryLeonard N Yenwongfai, Ranjana Arora, Alexander P Smith, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|February 7, 2018
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic ArthritisGrant S Schulert, Mingce Zhang, Ammar Husami, et al.
Blood|June 12, 2014
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosisKejian Zhang, Shanmuganathan Chandrakasan, Heather Chapman, et al.
BMC Biotechnology|February 12, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarraysPrachi Kothiyal, Stephanie Cox, Jonathan Ebert, et al.
Pageof 5

Showing results (1-10 of 41) with videos related to

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Pageof 5
American Journal of Hematology|December 5, 2025
When a Trait Becomes a Disease: A Rare Hematologic Overlap of Sickle Cell Trait and Hereditary SpherocytosisOmar Ammari, Mina Shah, Yasmin Elgammal, et al.
Pediatric Dermatology|January 16, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosaAnne W Lucky, Neha Dagaonkar, Karen Lammers, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|April 23, 2020
Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutationsAmmar Husami, Jesse Slone, Jenice Brown, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
Genetic Analysis and Functional Assessment of a <i>TGFBR2</i> Variant in Micrognathia and Cleft PalateJes-Rite Michaels, Ammar Husami, Andrew M Vontell, et al.
NPJ Genomic Medicine|July 21, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patientsZeyu Yang, Amy Shikany, Ammar Husami, et al.
Plos One|June 9, 2025
Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palateJes-Rite Michaels, Paul P R Iyyanar, Ammar Husami, et al.
Pediatric Blood & Cancer|October 3, 2022
Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestryLeonard N Yenwongfai, Ranjana Arora, Alexander P Smith, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|February 7, 2018
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic ArthritisGrant S Schulert, Mingce Zhang, Ammar Husami, et al.
Blood|June 12, 2014
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosisKejian Zhang, Shanmuganathan Chandrakasan, Heather Chapman, et al.
BMC Biotechnology|February 12, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarraysPrachi Kothiyal, Stephanie Cox, Jonathan Ebert, et al.
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