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Blood|April 11, 2018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosisIvan K Chinn, Olive S Eckstein, Erin C Peckham-Gregory, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg 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 arthritisLevi 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 diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.
Blood|July 21, 2023
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndromeRoxane Labrosse, Julia I Chu, Myriam A Armant, et al.
Blood|April 9, 2020
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC reportLauri 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 HCTRebecca 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 PIDTCGeoffrey 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 HCTRebecca A Marsh, Jennifer W Leiding, Brent R Logan, et al.
Journal of Clinical Immunology|October 2, 2020
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC CentersMorna J Dorsey, Nicola A M Wright, Natalia S Chaimowitz, et al.
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