Items where Author is "Karimiani, E. G."
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(2022) Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. ANNALS OF NEUROLOGY. pp. 304-321. ISSN 0364-5134 1531-8249 J9 - ANN NEUROL
(2022) A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Clin Genet. ISSN 0009-9163
(2019) Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis. Iranian Journal of Child Neurology. pp. 155-162. ISSN 1735-4668