Items where Author is "Nikuei, P."
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Number of items: 3.
(2026) Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses. Human Genetics. p. 19. ISSN 0340-6717
(2025) Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clinical genetics. pp. 366-368. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)
(2025) Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. Movement Disorders. pp. 2531-2537. ISSN 0885-3185