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K Chinn

Showing results (111-120 of 135) with videos related to

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The Journal of Allergy and Clinical Immunology|October 1, 2019
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & ImmunologyIvan K Chinn, Alice Y Chan, Karin Chen, et al.
JCI Insight|December 8, 2022
An ELF4 hypomorphic variant results in NK cell deficiencySandra Andrea Salinas, Emily M Mace, Matilde I Conte, et al.
Nature|January 1, 2025
Monoallelic expression can govern penetrance of inborn errors of immunityO'Jay Stewart, Conor Gruber, Haley E Randolph, et al.
The Journal of Allergy and Clinical Immunology|August 4, 2016
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencingHui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, et al.
American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.
The Journal of Clinical Investigation|September 1, 2020
Human NK cell deficiency as a result of biallelic mutations in MCM10Emily M Mace, Silke Paust, Matilde I Conte, et al.
Blood|September 11, 2019
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesisIdo Somekh, Marini Thian, David Medgyesi, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
The Journal of Allergy and Clinical Immunology|July 30, 2021
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disordersLisa R Forbes, Olive S Eckstein, Nitya Gulati, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Pageof 14

Showing results (111-120 of 135) with videos related to

Sort By:
Pageof 14
The Journal of Allergy and Clinical Immunology|October 1, 2019
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & ImmunologyIvan K Chinn, Alice Y Chan, Karin Chen, et al.
JCI Insight|December 8, 2022
An ELF4 hypomorphic variant results in NK cell deficiencySandra Andrea Salinas, Emily M Mace, Matilde I Conte, et al.
Nature|January 1, 2025
Monoallelic expression can govern penetrance of inborn errors of immunityO'Jay Stewart, Conor Gruber, Haley E Randolph, et al.
The Journal of Allergy and Clinical Immunology|August 4, 2016
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencingHui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, et al.
American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.
The Journal of Clinical Investigation|September 1, 2020
Human NK cell deficiency as a result of biallelic mutations in MCM10Emily M Mace, Silke Paust, Matilde I Conte, et al.
Blood|September 11, 2019
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesisIdo Somekh, Marini Thian, David Medgyesi, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
The Journal of Allergy and Clinical Immunology|July 30, 2021
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disordersLisa R Forbes, Olive S Eckstein, Nitya Gulati, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Pageof 14