Detalhe da pesquisa
1.
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.
Int J Neurosci
; 131(2): 206-211, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32172615
2.
A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
J Stroke Cerebrovasc Dis
; 29(7): 104832, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32414585
3.
Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family.
Pak J Med Sci
; 36(6): 1425-1428, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32968423
4.
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
Neurol Sci
; 40(2): 299-303, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30392057
5.
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
Pak J Med Sci
; 35(3): 764-770, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31258591
6.
A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures.
Neuropediatrics
; 52(2): 150-152, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33065750
7.
Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease.
Front Pediatr
; 10: 862722, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35685919
8.
Identification of Novel Gene Signatures using Next-Generation Sequencing Data from COVID-19 Infection Models: Focus on Neuro-COVID and Potential Therapeutics.
Front Pharmacol
; 12: 688227, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34531741
9.
Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.
Front Pediatr
; 9: 829251, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-35265569
10.
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Neurol Res
; 43(2): 141-147, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33012273
11.
Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family.
Genes Dis
; 8(1): 110-114, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33569519
12.
Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.
Front Genet
; 11: 14, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32153630
13.
Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly.
Front Pediatr
; 8: 627122, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33643967
14.
A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy.
J Epilepsy Res
; 10(1): 40-43, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32983954
15.
A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.
Intractable Rare Dis Res
; 9(3): 151-155, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32844072
16.
Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.
Saudi J Biol Sci
; 27(11): 3125-3131, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33100873
17.
Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.
Front Genet
; 11: 368, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32457794
18.
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine.
Intractable Rare Dis Res
; 8(1): 67-71, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30881862
19.
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.
Intractable Rare Dis Res
; 8(2): 142-145, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-31218166
20.
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Seizure
; 69: 133-139, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-31035234