Items where Author is "Pehlivan, 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

(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.

(2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. pp. 3273-3288. ISSN 0006-8950

(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