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A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.677780
- By:
- Publication type:
- Article
Supplementary Materials: Assessment of Radiation Induced Therapeutic Effect and Cytotoxicity in Cancer Patients Based on Transcriptomic Profiling.
- Published in:
- 2016
- By:
- Publication type:
- Chart/Diagram/Graph
Assessment of Radiation Induced Therapeutic Effect and Cytotoxicity in Cancer Patients Based on Transcriptomic Profiling.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 250, doi. 10.3390/ijms17020250
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- Publication type:
- Article
Association between vitamin D and glycaemic parameters in a multi-ethnic cohort of postmenopausal women with type 2 diabetes in Saudi Arabia.
- Published in:
- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00825-3
- By:
- Publication type:
- Article
KIF2A regulates the development of dentate granule cells and postnatal hippocampal wiring.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.30935
- By:
- Publication type:
- Article
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3018, doi. 10.1002/ajmg.a.37845
- By:
- Publication type:
- Article
An Interleukin-1 Genotype Is Associated with Fatal Outcome of Meningococcal Disease.
- Published in:
- Journal of Infectious Diseases, 2000, v. 182, n. 5, p. 1557, doi. 10.1086/315889
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- Publication type:
- Article
Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family.
- Published in:
- Pakistan Journal of Medical Sciences, 2020, v. 36, n. 6, p. 1425, doi. 10.12669/pjms.36.6.2579
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- Publication type:
- Article
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
- Published in:
- Pakistan Journal of Medical Sciences, 2019, v. 35, n. 3, p. 764, doi. 10.12669/pjms.35.3.36
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- Publication type:
- Article
Anticancer Compound Plumbagin and Its Molecular Targets: A Structural Insight into the Inhibitory Mechanisms Using Computational Approaches.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087309
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- Publication type:
- Article
Copy number variations in Saudi family with intellectual disability and epilepsy.
- Published in:
- BMC Genomics, 2016, v. 17, p. 61, doi. 10.1186/s12864-016-3091-6
- By:
- Publication type:
- Article
Cyclin D1 as a therapeutic target of renal cell carcinoma- a combined transcriptomics, tissue microarray and molecular docking study from the Kingdom of Saudi Arabia.
- Published in:
- BMC Cancer, 2016, v. 16, p. 9, doi. 10.1186/s12885-016-2775-2
- By:
- Publication type:
- Article
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Metformin improves the angiogenic potential of human CD34+ cells co-incident with downregulating CXCL10 and TIMP1 gene expression and increasing VEGFA under hyperglycemia and hypoxia within a therapeutic window for myocardial infarction.
- Published in:
- Cardiovascular Diabetology, 2016, v. 15, p. 1, doi. 10.1186/s12933-016-0344-2
- By:
- Publication type:
- Article
MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0876-x
- By:
- Publication type:
- Article
Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.
- Published in:
- Pediatric Cardiology, 2018, v. 39, n. 5, p. 924, doi. 10.1007/s00246-018-1842-7
- By:
- Publication type:
- Article
Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00368
- By:
- Publication type:
- Article
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.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00014
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- Publication type:
- Article
Molecular genetics of human primary microcephaly: an overview.
- Published in:
- BMC Medical Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/1755-8794-8-S1-S4
- By:
- Publication type:
- Article
The Influence of Interleukin Gene Polymorphism on Expression of Interleukin-1β and Tumor Necrosis Factor-α in Periodontal Tissue and Gingival Crevicular Fluid.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Comprehensive molecular biomarker identification in breast cancer brain metastases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.
- Published in:
- Journal of Translational Medicine, 2012, v. 10, n. 1, p. 199, doi. 10.1186/1479-5876-10-199
- By:
- Publication type:
- Article
The Effects of Prenatal Exposure to Pregabalin on the Development of Ventral Midbrain Dopaminergic Neurons.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 5, p. 852, doi. 10.3390/cells11050852
- By:
- Publication type:
- Article
SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study.
- Published in:
- Application of Clinical Genetics, 2019, v. 12, p. 213, doi. 10.2147/TACG.S229952
- By:
- Publication type:
- Article
Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2013, v. 36, n. 4, p. 501, doi. 10.1007/s11239-012-0864-x
- By:
- Publication type:
- Article
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.
- Published in:
- Neurosciences, 2018, v. 23, n. 4, p. 346, doi. 10.17712/nsj.2018.4.20180095
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- Publication type:
- Article
Public awareness of central nervous system tumors in the Kingdom of Saudi Arabia.
- Published in:
- Neurosciences, 2018, v. 23, n. 3, p. 227, doi. 10.17712/nsj.2018.3.20180055
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- Publication type:
- Article
Characterization of familial breast cancer in Saudi Arabia.
- Published in:
- BMC Genomics, 2015, v. 16, p. S3, doi. 10.1186/1471-2164-16-S1-S3
- By:
- Publication type:
- Article
Molecular genetics of human primary microcephaly: an overview.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/1755-8794-8-S1-S4
- By:
- Publication type:
- Article
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/1471-2164-16-S1-S10
- By:
- Publication type:
- Article
Molecular genetics of human primary microcephaly: an overview.
- Published in:
- BMC Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/1755-8794-8-S1-S4
- By:
- Publication type:
- Article
Molecular genetics of human primary microcephaly: an overview.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/1755-8794-8-S1-S4
- By:
- Publication type:
- Article
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/1471-2164-16-S1-S10
- By:
- Publication type:
- Article
WYE-354 restores Adriamycin sensitivity in multidrug-resistant acute myeloid leukemia cell lines.
- Published in:
- Oncology Reports, 2019, v. 41, n. 6, p. 3179, doi. 10.3892/or.2019.7093
- By:
- Publication type:
- Article
Low expression of leptin and its association with breast cancer: A transcriptomic study.
- Published in:
- Oncology Reports, 2016, v. 36, n. 1, p. 43, doi. 10.3892/or.2016.4806
- By:
- Publication type:
- Article