Items where Author is "Karimiani, E. G."

Article

(2022) Biallelic Variants in the Ectonucleotidase <i>ENTPD1</i> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of Neurology. pp. 304-321. ISSN 0364-5134

(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 <i>DPM3</i> variant leads to muscle and brain disease. Clinical Genetics. pp. 530-536. ISSN 0009-9163

(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