Detalles de la búsqueda
1.
Myocardial infarction biomarker discovery with integrated gene expression, pathways and biological networks analysis.
Genomics
; 112(6): 5072-5085, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32920122
2.
Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
J Gene Med
; 22(1): e3143, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31750994
3.
Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.
J Gene Med
; 22(6): e3176, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32073192
4.
Prevalence of CEA, CA 125, and CA 15-3 serum tumour markers in different regions of Saudi Arabia.
Saudi Med J
; 45(6): 565-571, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38830664
5.
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent-reported measures.
Mol Genet Genomic Med
; 12(1): e2337, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38093585
6.
Rhinolith Misdiagnosed as Fungal Mucin.
Cureus
; 15(10): e46648, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37937012
7.
The Association of Sociodemographic Factors, Postictal Symptoms, and Medical History With Seizure Type in Patients With Epilepsy: A Cross-Sectional Study.
Cureus
; 15(5): e39763, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37398836
8.
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.
Gene
; 851: 146909, 2023 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36162527
9.
Association of a single nucleotide polymorphism in SOD2 with susceptibility for the development of diabetic nephropathy in patients with type 2 diabetes: A Saudi population study.
Endocrinol Diabetes Metab
; 6(6): e449, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37698290
10.
Potential Biomarkers for Parkinson Disease from Functional Enrichment and Bioinformatic Analysis of Global Gene Expression Patterns of Blood and Substantia Nigra Tissues.
Bioinform Biol Insights
; 17: 11779322231166214, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37153842
11.
Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis.
Front Med (Lausanne)
; 10: 1164305, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37215724
12.
Integrative weighted molecular network construction from transcriptomics and genome wide association data to identify shared genetic biomarkers for COPD and lung cancer.
PLoS One
; 17(10): e0274629, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36194576
13.
Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients.
Front Pediatr
; 10: 895074, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35692981
14.
Identifying significant genes and functionally enriched pathways in familial hypercholesterolemia using integrated gene co-expression network analysis.
Saudi J Biol Sci
; 29(5): 3287-3299, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35844366
15.
The value of repeating fine-needle aspiration for thyroid nodules.
Ann Saudi Med
; 41(1): 36-42, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33550907
16.
Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.
Saudi J Biol Sci
; 27(6): 1494-1502, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32489286
17.
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.
Front Pediatr
; 7: 44, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30847336
18.
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
Sci Rep
; 8(1): 2053, 2018 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29391579
19.
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
J Neurol Sci
; 363: 240-4, 2016 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27000257
20.
Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
BMC Res Notes
; 8: 271, 2015 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-26113134