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.
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
5.
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
6.
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.
Ann Neurol
; 79(2): 335-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26703368
7.
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
8.
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Front Genet
; 13: 883211, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719383
9.
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
10.
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
11.
Research: Prevalence of neural tube defects Khartoum, Sudan August 2014-July 2015.
BMC Res Notes
; 9(1): 495, 2016 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881182
12.
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
13.
The quality of life among Sudanese children with epilepsy and their care givers.
Sudan J Paediatr
; 14(1): 51-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493390
14.
Traditional and spiritual medicine among Sudanese children with epilepsy.
Sudan J Paediatr
; 13(1): 31-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493355