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American Journal of Human Genetics
|
June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Asbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
Nature Genetics
|
April 21, 2015
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Levi B Watkin, Birthe Jessen, Wojciech Wiszniewski, et al.
Science (New York, N.Y.)
|
July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Sarah A Cook, William A Comrie, M Cecilia Poli, et al.
The Journal of Allergy and Clinical Immunology
|
May 27, 2026
Guidance on JAK inhibitor treatment for inborn errors of JAK-STAT signaling (2026). An international consensus statement on behalf of the ESID/EBMT-IEWP and ERN-RITA
Peter Olbrich, M Fischer, A Deyà-Martinez, et al.
Blood
|
July 21, 2023
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
Roxane Labrosse, Julia I Chu, Myriam A Armant, et al.
The Journal of Allergy and Clinical Immunology
|
February 17, 2019
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
Stefano Volpi, Maria Pia Cicalese, Paul Tuijnenburg, et al.
Blood
|
April 9, 2020
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report
Lauri M Burroughs, Aleksandra Petrovic, Ruta Brazauskas, et al.
Journal of Clinical Immunology
|
August 4, 2019
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT
Rebecca A Marsh, Jennifer W Leiding, Brent R Logan, et al.
Blood
|
June 7, 2022
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
Geoffrey D E Cuvelier, Brent R Logan, Susan E Prockop, et al.
Journal of Clinical Immunology
|
August 30, 2020
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT
Rebecca A Marsh, Jennifer W Leiding, Brent R Logan, et al.
Page
of 34
Search research articles
Search
Showing results (321-330 of 339) with videos related to
Sort By:
Page
of 34
American Journal of Human Genetics
|
June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Asbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
Nature Genetics
|
April 21, 2015
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Levi B Watkin, Birthe Jessen, Wojciech Wiszniewski, et al.
Science (New York, N.Y.)
|
July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Sarah A Cook, William A Comrie, M Cecilia Poli, et al.
The Journal of Allergy and Clinical Immunology
|
May 27, 2026
Guidance on JAK inhibitor treatment for inborn errors of JAK-STAT signaling (2026). An international consensus statement on behalf of the ESID/EBMT-IEWP and ERN-RITA
Peter Olbrich, M Fischer, A Deyà-Martinez, et al.
Blood
|
July 21, 2023
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
Roxane Labrosse, Julia I Chu, Myriam A Armant, et al.
The Journal of Allergy and Clinical Immunology
|
February 17, 2019
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
Stefano Volpi, Maria Pia Cicalese, Paul Tuijnenburg, et al.
Blood
|
April 9, 2020
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report
Lauri M Burroughs, Aleksandra Petrovic, Ruta Brazauskas, et al.
Journal of Clinical Immunology
|
August 4, 2019
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT
Rebecca A Marsh, Jennifer W Leiding, Brent R Logan, et al.
Blood
|
June 7, 2022
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
Geoffrey D E Cuvelier, Brent R Logan, Susan E Prockop, et al.
Journal of Clinical Immunology
|
August 30, 2020
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT
Rebecca A Marsh, Jennifer W Leiding, Brent R Logan, et al.
Page
of 34