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British Journal of Haematology
|
March 3, 2024
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Chloé Bianchi, Henri Margot, Helder Fernandes, et al.
The Journal of Allergy and Clinical Immunology
|
June 21, 2017
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
Daniel Petersheim, Michel J Massaad, Saetbyul Lee, et al.
Blood
|
January 30, 2009
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
Aude Magerus-Chatinet, Marie-Claude Stolzenberg, Maria S Loffredo, et al.
The Journal of Allergy and Clinical Immunology
|
October 13, 2018
Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency
Harry Sokol, Nizar Mahlaoui, Claire Aguilar, et al.
American Journal of Human Genetics
|
December 26, 2001
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
Capucine Picard, Claire Fieschi, Frédéric Altare, et al.
Circulation. Cardiovascular Genetics
|
November 16, 2011
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency
Marie-Olivia Chandesris, Arshid Azarine, Kim-Thanh Ong, et al.
Blood
|
September 25, 2012
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients
Sandra Weller, Mélanie Bonnet, Héloïse Delagreverie, 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.
Clinical Immunology (Orlando, Fla.)
|
February 19, 2019
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations
Inga Tometten, Kerstin Felgentreff, Manfred Hönig, et al.
Nature Genetics
|
December 2, 2008
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
Chantal Lagresle-Peyrou, Emmanuelle M Six, Capucine Picard, et al.
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of 40
Search research articles
Search
Showing results (281-290 of 400) with videos related to
Sort By:
Page
of 40
British Journal of Haematology
|
March 3, 2024
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Chloé Bianchi, Henri Margot, Helder Fernandes, et al.
The Journal of Allergy and Clinical Immunology
|
June 21, 2017
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
Daniel Petersheim, Michel J Massaad, Saetbyul Lee, et al.
Blood
|
January 30, 2009
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
Aude Magerus-Chatinet, Marie-Claude Stolzenberg, Maria S Loffredo, et al.
The Journal of Allergy and Clinical Immunology
|
October 13, 2018
Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency
Harry Sokol, Nizar Mahlaoui, Claire Aguilar, et al.
American Journal of Human Genetics
|
December 26, 2001
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
Capucine Picard, Claire Fieschi, Frédéric Altare, et al.
Circulation. Cardiovascular Genetics
|
November 16, 2011
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency
Marie-Olivia Chandesris, Arshid Azarine, Kim-Thanh Ong, et al.
Blood
|
September 25, 2012
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients
Sandra Weller, Mélanie Bonnet, Héloïse Delagreverie, 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.
Clinical Immunology (Orlando, Fla.)
|
February 19, 2019
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations
Inga Tometten, Kerstin Felgentreff, Manfred Hönig, et al.
Nature Genetics
|
December 2, 2008
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
Chantal Lagresle-Peyrou, Emmanuelle M Six, Capucine Picard, et al.
Page
of 40