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Showing results (341-350 of 357) with videos related to

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Nature Genetics|April 21, 2015
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisLevi B Watkin, Birthe Jessen, Wojciech Wiszniewski, et al.
Blood|July 7, 2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic <i>IKBKG</i>/NEMO mutationsCharline Miot, Kohsuke Imai, Chihaya Imai, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
Science (New York, N.Y.)|July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.
The Journal of Allergy and Clinical Immunology|September 19, 2025
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meetingJacques G Rivière, Lisa Bastarache, Luiza C Campos, et al.
The New England Journal of Medicine|December 25, 2009
Variants of DENND1B associated with asthma in childrenPatrick M A Sleiman, James Flory, Marcin Imielinski, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
The Journal of Experimental Medicine|October 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 functionMichael T Lam, Simona Coppola, Oliver H F Krumbach, et al.
Pageof 36

Showing results (341-350 of 357) with videos related to

Sort By:
Pageof 36
Nature Genetics|April 21, 2015
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisLevi B Watkin, Birthe Jessen, Wojciech Wiszniewski, et al.
Blood|July 7, 2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic <i>IKBKG</i>/NEMO mutationsCharline Miot, Kohsuke Imai, Chihaya Imai, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
Science (New York, N.Y.)|July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.
The Journal of Allergy and Clinical Immunology|September 19, 2025
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meetingJacques G Rivière, Lisa Bastarache, Luiza C Campos, et al.
The New England Journal of Medicine|December 25, 2009
Variants of DENND1B associated with asthma in childrenPatrick M A Sleiman, James Flory, Marcin Imielinski, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
The Journal of Experimental Medicine|October 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 functionMichael T Lam, Simona Coppola, Oliver H F Krumbach, et al.
Pageof 36