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The Journal of Clinical Investigation
|
November 6, 2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Patrick Maffucci, Jose Chavez, Thomas J Jurkiw, et al.
Journal of Clinical Immunology
|
February 13, 2020
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Aziz Bousfiha, Leila Jeddane, Capucine Picard, et al.
Journal of Clinical Immunology
|
May 19, 2016
Hyper IgM Syndrome: a Report from the USIDNET Registry
Emily A Leven, Patrick Maffucci, Hans D Ochs, et al.
Clinical Immunology (Orlando, Fla.)
|
January 10, 2002
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment
Ulrike H M Ziegner, Roger H Kobayashi, Charlotte Cunningham-Rundles, et al.
Journal of Clinical Immunology
|
August 20, 2020
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Hye Sun Kuehn, Andrea Bernasconi, Julie E Niemela, et al.
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.
Journal of Clinical Immunology
|
September 9, 2020
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Hye Sun Kuehn, Andrea Bernasconi, Julie E Niemela, et al.
Journal of Clinical Immunology
|
October 21, 2015
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard, Waleed Al-Herz, Aziz Bousfiha, et al.
Frontiers in Immunology
|
May 9, 2012
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, et al.
The Journal of Clinical Investigation
|
May 2, 2023
Selective IgA2 deficiency in a patient with small intestinal Crohn's disease
Pablo Canales-Herrerias, Yolanda Garcia-Carmona, Joan Shang, et al.
Page
of 29
Search research articles
Search
Showing results (231-240 of 289) with videos related to
Sort By:
Page
of 29
The Journal of Clinical Investigation
|
November 6, 2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Patrick Maffucci, Jose Chavez, Thomas J Jurkiw, et al.
Journal of Clinical Immunology
|
February 13, 2020
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Aziz Bousfiha, Leila Jeddane, Capucine Picard, et al.
Journal of Clinical Immunology
|
May 19, 2016
Hyper IgM Syndrome: a Report from the USIDNET Registry
Emily A Leven, Patrick Maffucci, Hans D Ochs, et al.
Clinical Immunology (Orlando, Fla.)
|
January 10, 2002
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment
Ulrike H M Ziegner, Roger H Kobayashi, Charlotte Cunningham-Rundles, et al.
Journal of Clinical Immunology
|
August 20, 2020
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Hye Sun Kuehn, Andrea Bernasconi, Julie E Niemela, et al.
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.
Journal of Clinical Immunology
|
September 9, 2020
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Hye Sun Kuehn, Andrea Bernasconi, Julie E Niemela, et al.
Journal of Clinical Immunology
|
October 21, 2015
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard, Waleed Al-Herz, Aziz Bousfiha, et al.
Frontiers in Immunology
|
May 9, 2012
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, et al.
The Journal of Clinical Investigation
|
May 2, 2023
Selective IgA2 deficiency in a patient with small intestinal Crohn's disease
Pablo Canales-Herrerias, Yolanda Garcia-Carmona, Joan Shang, et al.
Page
of 29