Associated Papers
TYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.
Sikhayeva N et al.
Genes, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Kışla Ekinci RM et al.
Archives of Rheumatology, 2023
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
Familial Mediterranean fever: breaking all the (genetic) rules.
Stella A et al.
Rheumatology (oxford, England), 2019
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.
Dogan H et al.
Bmc Medical Genetics, 2014
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population.
Lainka E et al.
European Journal of Pediatrics, 2012
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