Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
Cone dystrophy associated with autoimmune polyglandular syndrome type 1.
Badawi A et al.
Scientific Reports, 2023
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess.
Soyak Aytekin E et al.
The Pediatric Infectious Disease Journal, 2021
Genetic profiling of children with advanced cholestatic liver disease.
Shagrani M et al.
Clinical Genetics, 2017
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2009
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