R. Abubaker

发表

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

O. Boespflug-Tanguy, M. Koko, S. Drunat, 2022, Frontiers in Genetics.

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

A. Brice, G. Stevanin, M. Ibrahim, 2020, Frontiers in Neurology.

Methylation of alpha-synuclein in a Sudanese cohort.

U. Wüllner, I. Schmitt, L. Elsayed, 2022, Parkinsonism & related disorders.

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

F. Lamari, A. Brice, G. Stevanin, 2021, Frontiers in Neurology.

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

O. Boespflug-Tanguy, S. Drunat, L. Elsayed, 2022, BMC Medical Genomics.

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

G. Stevanin, Z. Chen, H. Chan, 2021, BMC Neurology.

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

G. Stevanin, M. Salih, S. Masmoudi, 2022, Annals of human genetics.

Novel variants causing megalencephalic leukodystrophy in Sudanese families

O. Boespflug-Tanguy, M. Koko, S. Drunat, 2021, Journal of Human Genetics.

Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

G. Achaz, S. Baulac, E. Leguern, 2021, Frontiers in Neurology.

Prevalence and Molecular Characterization of β- Lactamases among Pathogens Isolated from Surgical Site Infections

G. Adwan, N. Hasan, R. Abubaker, 2016 .

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

G. Stevanin, A. Bakhiet, M. Ibrahim, 2023, European journal of human genetics : EJHG.