Showing results (201-210 of 271) with videos related to
Sort By:
Pageof 28
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.The New England Journal of Medicine|June 5, 2014
Actionable diagnosis of neuroleptospirosis by next-generation sequencingMichael R Wilson, Samia N Naccache, Erik Samayoa, et al.Journal of Clinical Immunology|October 9, 2015
The 2015 IUIS Phenotypic Classification for Primary ImmunodeficienciesAziz Bousfiha, Leïla Jeddane, Waleed Al-Herz, et al.Journal of Clinical Immunology|May 31, 2019
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI SyndromeStefano Volpi, Antonella Insalaco, Roberta Caorsi, et al.Journal of Clinical Immunology|June 5, 2023
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE SyndromeTiphaine Arlabosse, Marie Materna, Orbicia Riccio, et al.The Journal of Allergy and Clinical Immunology|December 1, 2022
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 DefinitionsChristopher C Dvorak, Elie Haddad, Jennifer Heimall, et al.Nature Genetics|December 2, 2008
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessChantal Lagresle-Peyrou, Emmanuelle M Six, Capucine Picard, et al.Nature Medicine|August 12, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolismAashish N Adhikari, Renata C Gallagher, Yaqiong Wang, et al.Pediatrics|January 27, 2019
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017George S Amatuni, Robert J Currier, Joseph A Church, et al.Blood|May 1, 2016
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiencyMaria Pia Cicalese, Francesca Ferrua, Laura Castagnaro, et al.Pageof 28