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16 results on '"the Jeffrey Modell Foundation"'

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1. Autoantibodies against type I IFNs in patients with critical influenza pneumonia

2. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

3. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

4. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

5. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

6. Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

7. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

8. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

9. COVID-19 infection in first trimester of pregnancy marked by a liver cytolysis in a woman previously treated by hydroxychloroquine for repeated implantation failure : a case report

10. Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

11. Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

12. Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

13. Inherited IL-12p40 Deficiency Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds

14. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

15. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both

16. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

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