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Proceedings of the National Academy of Sciences of the United States of America
|
December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Patrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 27, 2024
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency
Xin Zhen, Michael J Betti, Meltem Ece Kars, et al.
The Journal of Experimental Medicine
|
May 27, 2015
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, et al.
Journal of Clinical Immunology
|
August 20, 2014
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency
Rubén Martínez-Barricarte, Orli Megged, Polina Stepensky, et al.
Journal of Clinical Immunology
|
December 4, 2024
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency
Xin Zhen, Michael J Betti, Meltem Ece Kars, et al.
Frontiers in Immunology
|
March 20, 2026
T cell and cytokine signatures as early predictors of response to IL-12/IL-23 inhibition in Crohn's disease
Eduardo Martín Arranz, Laura García-Ramirez, Ana Van Den Rym, et al.
Biorxiv : the Preprint Server for Biology
|
July 16, 2025
Ablation of <i>Prdm16</i> and beige fat causes vascular remodeling and elevated blood pressure
Mascha Koenen, Tobias Becher, Giulia Pagano, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 11, 2017
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
Erika Della Mina, Alessandro Borghesi, Hao Zhou, et al.
Gastroenterology
|
December 28, 2020
Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort
Kyle Gettler, Rachel Levantovsky, Arden Moscati, et al.
Journal of Clinical Immunology
|
May 22, 2018
Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients
Jennifer R Heimall, David Hagin, Joud Hajjar, et al.
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of 12
Search research articles
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Showing results (71-80 of 116) with videos related to
Sort By:
Page
of 12
Proceedings of the National Academy of Sciences of the United States of America
|
December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Patrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 27, 2024
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency
Xin Zhen, Michael J Betti, Meltem Ece Kars, et al.
The Journal of Experimental Medicine
|
May 27, 2015
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, et al.
Journal of Clinical Immunology
|
August 20, 2014
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency
Rubén Martínez-Barricarte, Orli Megged, Polina Stepensky, et al.
Journal of Clinical Immunology
|
December 4, 2024
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency
Xin Zhen, Michael J Betti, Meltem Ece Kars, et al.
Frontiers in Immunology
|
March 20, 2026
T cell and cytokine signatures as early predictors of response to IL-12/IL-23 inhibition in Crohn's disease
Eduardo Martín Arranz, Laura García-Ramirez, Ana Van Den Rym, et al.
Biorxiv : the Preprint Server for Biology
|
July 16, 2025
Ablation of <i>Prdm16</i> and beige fat causes vascular remodeling and elevated blood pressure
Mascha Koenen, Tobias Becher, Giulia Pagano, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 11, 2017
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
Erika Della Mina, Alessandro Borghesi, Hao Zhou, et al.
Gastroenterology
|
December 28, 2020
Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort
Kyle Gettler, Rachel Levantovsky, Arden Moscati, et al.
Journal of Clinical Immunology
|
May 22, 2018
Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients
Jennifer R Heimall, David Hagin, Joud Hajjar, et al.
Page
of 12