MK
Mahmoud Koko

Publications (5)

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 vie et biotechnologies3 Sciences de la santé2

Statistiques

Consultations10
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