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17 results on '"Goddard, Sarah"'

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1. A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom

3. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

4. COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

5. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

6. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

7. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

8. 108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns

9. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

11. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

13. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

16. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

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