Associated Papers
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M et al.
Clinical and Experimental Immunology, 2020
Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
Alsultan A et al.
Pediatric Blood & Cancer, 2020
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
Hoenig M et al.
British Journal of Haematology, 2018
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H et al.
The Journal of Allergy and Clinical Immunology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
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