Detalhe da pesquisa
1.
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Ann Hum Genet
; 86(4): 181-194, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35118659
2.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
J Hum Genet
; 67(3): 127-132, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504271
3.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann Hum Genet
; 85(5): 186-195, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111303
4.
Intelligence quotient (IQ) among children with epilepsy: National epidemiological study - Sudan.
Epilepsy Behav
; 103(Pt A): 106813, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937511
5.
Classification and management of epilepsy and epileptic syndromes in a cohort of 202 school children- a 2 year follow up study- Sudan.
BMC Neurol
; 19(1): 290, 2019 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729960
6.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiol Genomics
; 50(11): 929-939, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345904
7.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
8.
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
BMC Med Genet
; 19(1): 72, 2018 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739362
9.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
medRxiv
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798571
10.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Eur J Hum Genet
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316952
11.
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Eur J Hum Genet
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012327
12.
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
BMC Med Genomics
; 15(1): 236, 2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348459
13.
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Front Genet
; 13: 883211, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719383
14.
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Front Neurol
; 12: 720201, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34489854
15.
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
Front Neurol
; 11: 569996, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193012
16.
Brain tuberculoma, an unusual cause of stroke in a child with trisomy 21: a case report.
J Med Case Rep
; 11(1): 114, 2017 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416000
17.
Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.
Paediatr Int Child Health
; 37(3): 188-192, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28162058
18.
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Eur J Hum Genet
; 25(1): 100-110, 2016 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601211
19.
Apert Syndrome: Late presentation and treatment challenges.
Sudan J Paediatr
; 14(2): 71-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493407