MK
Mahmoud Koko

Publications (11)

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
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
Article scientifique · 2022
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Article scientifique · 2021
Lost in Translation: The Pitfalls of Ensembl Gene Annotations Between Human Genome Assemblies and Their Impact on Diagnostics
Article scientifique · 2020
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
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
EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways
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
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Article scientifique · 2018
A bioinformatic panel to interrogate thousands of ExAC variants with minor reference allele that are missed by conventional variant calling
Article scientifique · 2016

Domaines principaux

Sciences de la santé6 Sciences de la vie et biotechnologies5

Statistiques

Consultations31
Téléchargements0