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Charlotte Cunningham-Rundles

Showing results (231-240 of 289) with videos related to

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The Journal of Clinical Investigation|November 6, 2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficienciesPatrick 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 ClassificationAziz Bousfiha, Leila Jeddane, Capucine Picard, et al.
Journal of Clinical Immunology|May 19, 2016
Hyper IgM Syndrome: a Report from the USIDNET RegistryEmily 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 treatmentUlrike 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 DeficiencyHye 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 analysisPatrick 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 DeficiencyHye 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 2015Capucine 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 immunodeficiencyWaleed 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 diseasePablo Canales-Herrerias, Yolanda Garcia-Carmona, Joan Shang, et al.
Pageof 29

Showing results (231-240 of 289) with videos related to

Sort By:
Pageof 29
The Journal of Clinical Investigation|November 6, 2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficienciesPatrick 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 ClassificationAziz Bousfiha, Leila Jeddane, Capucine Picard, et al.
Journal of Clinical Immunology|May 19, 2016
Hyper IgM Syndrome: a Report from the USIDNET RegistryEmily 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 treatmentUlrike 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 DeficiencyHye 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 analysisPatrick 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 DeficiencyHye 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 2015Capucine 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 immunodeficiencyWaleed 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 diseasePablo Canales-Herrerias, Yolanda Garcia-Carmona, Joan Shang, et al.
Pageof 29