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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 3, p. 152, doi. 10.3390/metabo14030152
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- Publication type:
- Article
Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 1, p. 118, doi. 10.3390/jpm12010118
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- Publication type:
- Article
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1839, doi. 10.1007/s10875-021-01115-2
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- Publication type:
- Article
Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.
- Published in:
- 2021
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- Publication type:
- journal article
Copy number variations in the genome of the Qatari population.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-1991-5
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- Publication type:
- Article
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.
- Published in:
- Biochemical Journal, 2018, v. 475, n. 24, p. 3933, doi. 10.1042/BCJ20180685
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- Publication type:
- Article
Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01473-w
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- Publication type:
- Article
Genetics of structural and functional brain changes in autism spectrum disorder.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00921-3
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- Publication type:
- Article
Qatar genome: Insights on genomics from the Middle East.
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. 499, doi. 10.1002/humu.24336
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- Publication type:
- Article
Genetic background of primary and familial HLH in Qatar: registry data and population study.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1326489
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- Publication type:
- Article
Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 11, p. 2403, doi. 10.3390/cells9112403
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- Publication type:
- Article
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 8, p. 1782, doi. 10.3390/cells9081782
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- Publication type:
- Article
Melanocortin‐4 receptor complexity in energy homeostasis,obesity and drug development strategies.
- Published in:
- Diabetes, Obesity & Metabolism, 2022, v. 24, n. 4, p. 583, doi. 10.1111/dom.14618
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- Publication type:
- Article
Identification of mutation resistance coldspots for targeting the SARS‐CoV2 main protease.
- Published in:
- IUBMB Life, 2021, v. 73, n. 4, p. 670, doi. 10.1002/iub.2465
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- Publication type:
- Article
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Epigenetics and Cardiovascular Disease in Diabetes.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01121-y
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- Publication type:
- Article
De novo mutations in histone-modifying genes in congenital heart disease.
- Published in:
- Nature, 2013, v. 498, n. 7453, p. 220, doi. 10.1038/nature12141
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- Publication type:
- Article
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00417-9
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- Publication type:
- Article
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1066182
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- Publication type:
- Article
The immune landscape of solid pediatric tumors.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2022, v. 41, n. 1, p. 1, doi. 10.1186/s13046-022-02397-z
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- Publication type:
- Article
Metabolic and Metabo-Clinical Signatures of Type 2 Diabetes, Obesity, Retinopathy, and Dyslipidemia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
439-P: A Promising Regulatory Role for MicroRNA-133b in Controlling Lipid Metabolism and Dyslipidemia Gene Expression in Diabetic Retinopathy: The 1000 Qataromics Cohort.
- Published in:
- Diabetes, 2021, v. 70, p. N.PAG, doi. 10.2337/db21-439-P
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- Publication type:
- Article
437-P: MicroRNA-223 Expression Is Upregulated in Type 2 Diabetes and Associated with Diabetic Retinopathy in Cohort of Qatar Biobank: Functional Validation in Zebrafish Model.
- Published in:
- Diabetes, 2021, v. 70, p. N.PAG, doi. 10.2337/db21-437-P
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- Publication type:
- Article
395-P: Identification of Key Genes and Transcriptional Factors Associated with Podocyte Functions in Human Diabetic Nephropathy.
- Published in:
- Diabetes, 2021, v. 70, p. N.PAG, doi. 10.2337/db21-395-P
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- Publication type:
- Article
1748-P: One Novel 7.2kb Deletion in Exon 8 of INSR Gene in Diabetic Qatari Female with Type A Insulin Resistance Syndrome: The 1000 Qatar-Omics Study Cohort.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1748-P
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- Publication type:
- Article
563-P: Differentially Expressed Plasma miRNAs Are Closely Associated with the Presence of Microvascular Complications in Type 2 Diabetes: The 1000 Qatar-Omics Study Cohort.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-563-P
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- Publication type:
- Article
600-P: The 1000 Qatar Omics Study: Development of New Analytical Tools for Early Prediction and Treatment of Diabetic Retinopathy in Qatar.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-600-P
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- Publication type:
- Article
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006206
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- Publication type:
- Article
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006103
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- Publication type:
- Article
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-01972-9
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- Publication type:
- Article
Genomic medicine in the Middle East.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-01003-9
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- Publication type:
- Article
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10353-8
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- Publication type:
- Article
Functional characterization of human myosin‐binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon‐specific cardiac phenotypes in zebrafish model.
- Published in:
- Journal of Cellular Physiology, 2020, v. 235, n. 11, p. 7870, doi. 10.1002/jcp.29441
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- Publication type:
- Article
The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature.
- Published in:
- Journal of Translational Medicine, 2023, p. 1, doi. 10.1186/s12967-023-03893-2
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- Publication type:
- Article
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A variant in sperm‐specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility.
- Published in:
- Journal of Gene Medicine, 2024, v. 26, n. 1, p. 1, doi. 10.1002/jgm.3583
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- Publication type:
- Article
Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 105, doi. 10.1002/humu.22460
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- Publication type:
- Article
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00263-z
- By:
- Publication type:
- Article
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00170-3
- By:
- Publication type:
- Article
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00166-5
- By:
- Publication type:
- Article
Maturity‐onset diabetes of the young (MODY) due to PDX1 mutation in a sib‐pair diabetes family from Qatar.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Deciphering the complex interplay of obesity, epithelial barrier dysfunction, and tight junction remodeling: Unraveling potential therapeutic avenues.
- Published in:
- Obesity Reviews, 2024, v. 25, n. 8, p. 1, doi. 10.1111/obr.13766
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- Publication type:
- Article
Conserved genes regulating human sex differentiation, gametogenesis and fertilization.
- Published in:
- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05162-2
- By:
- Publication type:
- Article
Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population.
- Published in:
- Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0411-6
- By:
- Publication type:
- Article
Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population.
- Published in:
- Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0411-6
- By:
- Publication type:
- Article
Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.
- Published in:
- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0199837
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- Publication type:
- Article
Genetic and Neuroimaging Approaches to Understanding Post-Traumatic Stress Disorder.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4503, doi. 10.3390/ijms21124503
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- Publication type:
- Article
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
- Published in:
- 2016
- By:
- Publication type:
- Case Study