MS
Mustafa A. Salih

Publications (8)

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration
Article scientifique · 2022
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
Genetic polymorphisms of fecundity genes in Watish Sudanese desert sheep
Article scientifique · 2020
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
Article scientifique · 2018
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
Article scientifique · 2018
Characterizing the morbid genome of ciliopathies
Article scientifique · 2016

Domaines principaux

Sciences de la santé5 Sciences de la vie et biotechnologies3

Statistiques

Consultations24
Téléchargements0