Items where Author is "Kariminejad, A."
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Number of items: 3.
(2026) Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy. Journal of medical genetics. ISSN 1468-6244 (Electronic) 0022-2593 (Linking)
(2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. pp. 3273-3288. ISSN 0006-8950
(2018) Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. Neurol Genet. e295. ISSN 2376-7839 (Print) 2376-7839 (Linking)