Detalhe da pesquisa
1.
Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.
J Genet Couns
; 31(4): 922-936, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194886
2.
Myocardial infarction biomarker discovery with integrated gene expression, pathways and biological networks analysis.
Genomics
; 112(6): 5072-5085, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920122
3.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
4.
Modulation of doxorubicin-induced expression of the multidrug resistance gene in breast cancer cells by diltiazem and protection against cardiotoxicity in experimental animals.
Cancer Cell Int
; 19: 191, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367189
5.
Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis.
J Cell Biochem
; 118(8): 2193-2207, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28059456
6.
A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.
J Cell Biochem
; 117(9): 2023-35, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26813965
7.
Environmental Risk Factors in the Etiology of Nonsyndromic Orofacial Clefts in the Western Region of Saudi Arabia.
Cleft Palate Craniofac J
; 53(4): 435-43, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402721
8.
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
Ann Hum Genet
; 79(5): 350-356, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26102279
9.
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.
Gene
; 851: 146909, 2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36162527
10.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23023959
11.
Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.
Front Med (Lausanne)
; 8: 694668, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34249980
12.
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.
Front Pediatr
; 9: 652011, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33981653
13.
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Hum Mutat
; 31(12): 1374-81, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20960468
14.
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Front Pediatr
; 8: 383, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32766185
15.
Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family.
Genet Test Mol Biomarkers
; 24(11): 723-731, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33121284
16.
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.
Saudi J Biol Sci
; 27(1): 271-278, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31889847
17.
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Saudi J Biol Sci
; 27(1): 324-334, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31889854
18.
Planning the human variome project: the Spain report.
Hum Mutat
; 30(4): 496-510, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19306394
19.
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.
Front Pediatr
; 7: 245, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294002
20.
Detection of Secondary Metabolites as Biomarkers for the Early Diagnosis and Prevention of Type 2 Diabetes.
Diabetes Metab Syndr Obes
; 12: 2675-2684, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908508