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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.
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.
La Tunisie Medicale
|
October 23, 2024
Phenotypes of 126 Moroccan HIES patients according to NIH Score
Ilham Fadil, Ibtihal Benhsaien, Jalila El Bakkouri, 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.
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.
Elife
|
January 21, 2015
Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection
Donna A MacDuff, Tiffany A Reese, Jacqueline M Kimmey, et al.
Journal of Clinical Immunology
|
March 7, 2019
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Leen Moens, Mieke Gouwy, Barbara Bosch, et al.
The Journal of Experimental Medicine
|
June 20, 2019
Inherited IL-18BP deficiency in human fulminant viral hepatitis
Serkan Belkaya, Eleftherios Michailidis, Cecilia B Korol, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 27, 2019
A deep intronic splice mutation of <i>STAT3</i> underlies hyper IgE syndrome by negative dominance
Joëlle Khourieh, Geetha Rao, Tanwir Habib, et al.
Elife
|
November 21, 2024
ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis
Stephanie Guillet, Tomi Lazarov, Natasha Jordan, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 154) with videos related to
Sort By:
Page
of 16
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.
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.
La Tunisie Medicale
|
October 23, 2024
Phenotypes of 126 Moroccan HIES patients according to NIH Score
Ilham Fadil, Ibtihal Benhsaien, Jalila El Bakkouri, 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.
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.
Elife
|
January 21, 2015
Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection
Donna A MacDuff, Tiffany A Reese, Jacqueline M Kimmey, et al.
Journal of Clinical Immunology
|
March 7, 2019
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Leen Moens, Mieke Gouwy, Barbara Bosch, et al.
The Journal of Experimental Medicine
|
June 20, 2019
Inherited IL-18BP deficiency in human fulminant viral hepatitis
Serkan Belkaya, Eleftherios Michailidis, Cecilia B Korol, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 27, 2019
A deep intronic splice mutation of <i>STAT3</i> underlies hyper IgE syndrome by negative dominance
Joëlle Khourieh, Geetha Rao, Tanwir Habib, et al.
Elife
|
November 21, 2024
ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis
Stephanie Guillet, Tomi Lazarov, Natasha Jordan, et al.
Page
of 16