Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.
about
Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood.Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.Primary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection.Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics.Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.Genomics of Immune Diseases and New Therapies.Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.Exome and genome sequencing for inborn errors of immunity.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017
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P2860
Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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name
Contribution of high-throughpu ...... of primary immunodeficiencies.
@en
type
label
Contribution of high-throughpu ...... of primary immunodeficiencies.
@en
prefLabel
Contribution of high-throughpu ...... of primary immunodeficiencies.
@en
P2860
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Contribution of high-throughpu ...... of primary immunodeficiencies.
@en
P2860
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10.1002/EJI.201444669
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2014-09-12T00:00:00Z