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James Verbsky

Showing results (31-40 of 41) with videos related to

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Pediatric Rheumatology Online Journal|August 31, 2012
Algorithm development for corticosteroid management in systemic juvenile idiopathic arthritis trial using consensus methodologyNorman T Ilowite, Christy I Sandborg, Brian M Feldman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Physiological Genomics|December 13, 2018
Identification of molecular signatures of cystic fibrosis disease status with plasma-based functional genomicsHara Levy, Shuang Jia, Amy Pan, et al.
Journal of Pediatric Genetics|May 13, 2017
Successful Application of Whole Genome Sequencing in a Medical Genetics ClinicDavid Bick, Pamela C Fraser, Michael F Gutzeit, et al.
The Journal of Allergy and Clinical Immunology|March 1, 2026
Allogeneic hematopoietic cell transplantation for partial RAG deficiency in children and adults: excellent outcomes with a reduced intensity, posttransplantation cyclophosphamide-based approachDimana Dimitrova, Marita Bosticardo, Ottavia M Delmonte, et al.
The Journal of Experimental Medicine|May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patientsCarole Le Coz, David N Nguyen, Chun Su, et al.
Blood Advances|December 11, 2025
Systematic functional validation of IKAROS variants from patients and laboratory-generated mutationsHye Sun Kuehn, Agustin Alejandro Gil Silva, Natchanun Klangkalya, et al.
JAMA|August 21, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United StatesAntonia Kwan, Roshini S Abraham, Robert Currier, et al.
Science Immunology|January 10, 2025
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signatureMarita Bosticardo, Kerry Dobbs, Ottavia M Delmonte, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

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Pageof 5
Pediatric Rheumatology Online Journal|August 31, 2012
Algorithm development for corticosteroid management in systemic juvenile idiopathic arthritis trial using consensus methodologyNorman T Ilowite, Christy I Sandborg, Brian M Feldman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Physiological Genomics|December 13, 2018
Identification of molecular signatures of cystic fibrosis disease status with plasma-based functional genomicsHara Levy, Shuang Jia, Amy Pan, et al.
Journal of Pediatric Genetics|May 13, 2017
Successful Application of Whole Genome Sequencing in a Medical Genetics ClinicDavid Bick, Pamela C Fraser, Michael F Gutzeit, et al.
The Journal of Allergy and Clinical Immunology|March 1, 2026
Allogeneic hematopoietic cell transplantation for partial RAG deficiency in children and adults: excellent outcomes with a reduced intensity, posttransplantation cyclophosphamide-based approachDimana Dimitrova, Marita Bosticardo, Ottavia M Delmonte, et al.
The Journal of Experimental Medicine|May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patientsCarole Le Coz, David N Nguyen, Chun Su, et al.
Blood Advances|December 11, 2025
Systematic functional validation of IKAROS variants from patients and laboratory-generated mutationsHye Sun Kuehn, Agustin Alejandro Gil Silva, Natchanun Klangkalya, et al.
JAMA|August 21, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United StatesAntonia Kwan, Roshini S Abraham, Robert Currier, et al.
Science Immunology|January 10, 2025
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signatureMarita Bosticardo, Kerry Dobbs, Ottavia M Delmonte, et al.
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