MA
Mutaz Amin

Publications (10)

Raw data supporting the findings presented in this study.
Jeu de données · 2025
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
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
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Article scientifique · 2018
Genetic diversity and multiplicity of Plasmodium falciparum merozoite surface protein 2 in field isolates from Sudan
Article scientifique · 2017
A bioinformatic panel to interrogate thousands of ExAC variants with minor reference allele that are missed by conventional variant calling
Article scientifique · 2016
Multiplicity of infection and genetic diversity of Plasmodium falciparum isolates from patients with uncomplicated and severe malaria in Gezira State, Sudan
Article scientifique · 2016

Domaines principaux

Sciences de la santé6 Sciences de la vie et biotechnologies3

Statistiques

Consultations41
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