Associated Papers
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN et al.
The Journal of Allergy and Clinical Immunology, 2014
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N et al.
Italian Journal of Pediatrics, 2012
Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.
Azarsiz E et al.
Journal of Clinical Immunology, 2011
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