RA
Rayan Abubaker

Publications (8)

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Article scientifique · 2023
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration
Article scientifique · 2022
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
Article scientifique · 2022
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
Article scientifique · 2022
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy
Article scientifique · 2021
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Article scientifique · 2021
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Article scientifique · 2021
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
Article scientifique · 2020

Domaines principaux

Sciences de la santé5 Sciences de la vie et biotechnologies3

Statistiques

Consultations28
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