AH
Ahlam A. Hamed

Publications (9)

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
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Article scientifique · 2021
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
Article scientifique · 2020
Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation
Article scientifique · 2020
Classification and management of epilepsy and epileptic syndromes in a cohort of 202 school children- a 2 year follow up study- Sudan
Article scientifique · 2019
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
Article scientifique · 2018
Brain tuberculoma, an unusual cause of stroke in a child with trisomy 21: a case report
Article scientifique · 2017

Domaines principaux

Sciences de la santé6 Sciences de la vie et biotechnologies3

Statistiques

Consultations33
Téléchargements0