Detalhe da pesquisa
1.
A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.
Pak J Med Sci
; 40(4): 782-784, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38545008
2.
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
J Gene Med
; 25(10): e3522, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119015
3.
Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.
Pak J Med Sci
; 39(5): 1337-1344, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37680843
4.
Exploration of potential molecular mechanisms and genotoxicity of anti-cancer drugs using next generation knowledge discovery methods.
Pak J Med Sci
; 39(4): 988-993, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492288
5.
Role of the antineoplastic drug bleomycin based on toxicogenomic-DNA damage inducing (TGx-DDI) genomic biomarkers data: A meta-analysis.
Pak J Med Sci
; 39(2): 423-429, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36950431
6.
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
Am J Med Genet A
; 188(9): 2693-2700, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35703069
7.
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
J Gene Med
; 23(1): e3279, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989887
8.
Association between vitamin D and glycaemic parameters in a multi-ethnic cohort of postmenopausal women with type 2 diabetes in Saudi Arabia.
BMC Endocr Disord
; 21(1): 162, 2021 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380489
9.
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.
Int J Neurosci
; 131(2): 206-211, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172615
10.
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
em Inglês
| MEDLINE | ID: mdl-32414585
11.
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
em Inglês
| MEDLINE | ID: mdl-32968423
12.
Correction to: Neuroprotective profile of pyruvate against ethanol-induced neurodegeneration in developing mice brain.
Neurol Sci
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355816
13.
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
em Inglês
| MEDLINE | ID: mdl-30392057
14.
Comparative Gene-Expression Analysis of Alzheimer's Disease Progression with Aging in Transgenic Mouse Model.
Int J Mol Sci
; 20(5)2019 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862043
15.
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
em Inglês
| MEDLINE | ID: mdl-31258591
16.
Hepato-protective effect of Allium sativum against immobilization stress in rats.
Pak J Pharm Sci
; 32(2): 521-528, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081761
17.
Metformin attenuate PTZ-induced apoptotic neurodegeneration in human cortical neuronal cells.
Pak J Med Sci
; 33(3): 581-585, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28811775
18.
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Am J Med Genet A
; 170(11): 3018-3022, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531570
19.
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
em Inglês
| MEDLINE | ID: mdl-33065750
20.
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
BMC Genomics
; 16 Suppl 1: S10, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25923336