Detalhe da pesquisa
1.
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.
Hum Genet
; 143(2): 169-183, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300321
2.
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Hum Genet
; 142(12): 1747-1754, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37957369
3.
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
4.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
J Hum Genet
; 67(3): 127-132, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504271
5.
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
6.
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
BMC Neurol
; 21(1): 78, 2021 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602173
7.
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
Neurogenetics
; 20(2): 91-98, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982090
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.
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
BMC Neurol
; 18(1): 175, 2018 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352563
10.
Funnel-shaped silicon nanowire for highly efficient light trapping.
Opt Lett
; 41(5): 1010-3, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26974103
11.
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
12.
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
13.
Giant localized electromagnetic field of highly doped silicon plasmonic nanoantennas.
Sci Rep
; 13(1): 5793, 2023 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37031268
14.
Characteristic modes of a slot antenna design based on defected ground structure for 5G applications.
Sci Rep
; 13(1): 15327, 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714897
15.
Consanguinity and willingness to perform premarital genetic screening in Sudan.
Eur J Hum Genet
; 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528188
16.
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
17.
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Front Genet
; 13: 883211, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719383
18.
The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.
Front Genet
; 12: 638730, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833777
19.
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
20.
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