Items where Author is "Maroofian, R."

(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

(2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. pp. 584-600. ISSN 0006-8950

(2018) An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. British Journal of Dermatology. E265-E267. ISSN 0007-0963