Items where Author is "Zaki, M. S."

Article

(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)

(2025) Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements. Genetics in Medicine. p. 17. ISSN 1098-3600

(2025) Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. Movement Disorders. pp. 2531-2537. ISSN 0885-3185

(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