Items where Author is "Marafi, D."

Article

(2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine. p. 23. ISSN 1098-3600

(2025) Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genetics in medicine : official journal of the American College of Medical Genetics. p. 101251. ISSN 1530-0366 (Electronic) 1098-3600 (Linking)

(2024) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences.

(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